genetic link – Genetic Science Services http://geneticscienceservices.com/ Sat, 26 Mar 2022 18:43:26 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://geneticscienceservices.com/wp-content/uploads/2021/10/icon-7.png genetic link – Genetic Science Services http://geneticscienceservices.com/ 32 32 Genetic link may cause lingering COVID symptoms https://geneticscienceservices.com/genetic-link-may-cause-lingering-covid-symptoms/ Sat, 29 Jan 2022 14:00:00 +0000 https://geneticscienceservices.com/genetic-link-may-cause-lingering-covid-symptoms/ Scientists have found a possible genetic link in individuals still suffering from loss of taste and loss of smell after recovering from COVID-19. Via Pexels Scientists have found a possible genetic link in individuals still suffering from loss of taste and loss of smell after recovering from COVID-19 infections. The loss of these senses was […]]]>

Scientists have found a possible genetic link in individuals still suffering from loss of taste and loss of smell after recovering from COVID-19.


woman who smells
Via Pexels

Scientists have found a possible genetic link in individuals still suffering from loss of taste and loss of smell after recovering from COVID-19 infections. The loss of these senses was a common symptom of the initial and subsequent strains of coronavirus. We don’t see it as much anymore with this omicron wave but those who suffered from Delta infections and even previous variants still suffer from their loss of taste and smell.

Early in the pandemic, it was clear that a sudden loss of these two intertwined senses was an early symptom of COVID-19. They often appeared before cold symptoms began to appear. A majority of those who have contracted this virus have experienced this very strange and frustrating symptom, however, the vast majority have recovered from it. Some were not so lucky and are still waiting. According to NBC News, 1.6 million Americans still live lives where they don’t like food or smell anything six months or more after recovery.

Smell and taste go hand in hand, and if one of these senses is disturbed, it will be very noticeable and affect your daily life. Scientists have researched the reasons why some people regain these senses and others do not. Although scientists don’t yet know why COVID-19 attacks these senses, they do know the source of the loss and have a theory.

The researchers believe that it is likely that COVID-19 attacks the cells of the olfactory epithelium of the nose. This is where humans’ sense of smell comes from and scientists theorize that the coronavirus attacks cells around the olfactory epithelium. These cells are there to protect the olfactory neurons which are there to allow humans to smell.

RELATED: How to help kids with ‘long’ COVID thrive in school


woman looking through microscope
Via Pexels

For some reason, these olfactory cells are attacked during infection. Since only a few of those who have been recovered have yet to regain these senses, there was a suspected connection. A study published in nature genetics details the data scientists used to identify two genetic loci, UGT2A1 and UGT2A2 found in people who have not yet regained their sense of smell and taste. Scientists used data from 69,841 people and found that 68% of those with COVID-19 lost their sense of smell and taste. Women were more likely than men to have this symptom. The genomes were discovered after performing ancestor sequencing using data from the 23andMe database.


Although there is now a connection, there may soon be a solution for those wondering if they will taste their favorite foods again. It’s a disappointing symptom and no one would want to dwell on it.

Source: NBC News, nature genetics


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Study identifies genetic link between early maturation and high aerobic performance in juvenile salmon https://geneticscienceservices.com/study-identifies-genetic-link-between-early-maturation-and-high-aerobic-performance-in-juvenile-salmon/ Fri, 28 Jan 2022 20:34:00 +0000 https://geneticscienceservices.com/study-identifies-genetic-link-between-early-maturation-and-high-aerobic-performance-in-juvenile-salmon/ A study conducted at the University of Helsinki indicates that early sexual maturation and high aerobic performance in salmon have a genetic link that is already evident in juvenile salmon. Salmon are born in rivers, migrate to the sea to reach maturity and return to spawn in their native river. While salmon that mature at […]]]>

A study conducted at the University of Helsinki indicates that early sexual maturation and high aerobic performance in salmon have a genetic link that is already evident in juvenile salmon.

Salmon are born in rivers, migrate to the sea to reach maturity and return to spawn in their native river. While salmon that mature at an early age return from the sea after just one year, slower-growing individuals may spend two or more years at sea.

Genomic regions have been identified in the salmon genome that strongly regulate the number of years spent at sea. Led by Academy of Finland researcher Tutku Aykanat, researchers from the University of Helsinki have bred a large number of young salmon that differed based on two of these regions.

The researchers measured the basal metabolic rate and aerobic performance of juvenile salmon before the start of their maturation process. Carriers of genetic variants associated with early sexual maturation were found to have better aerobic performance than those whose variants were associated with late onset of sexual maturity. Aerobic performance refers to the metabolic ability to produce energy through aerobic cellular respiration, for example in muscles.

Better aerobic performance can promote earlier maturation, as growth, food supply and reproduction require energy produced by aerobic metabolism.”


Jenni Prokkola, Postdoctoral Researcher, Faculty of Biological and Environmental Sciences, University of Helsinki

The genetic coupling of age at maturity and performance did not depend on the amount of food available to the salmon, indicating that the finding may be generalizable to both wild salmon populations and farmed conditions.

“Salmon that have spent several years at sea and mature later are considerably larger and produce more offspring when they return to spawn than salmon that spawn after only one year at sea. would be important to determine if these salmon are more sensitive to global warming due to their lower aerobic performance Higher water temperatures increase the energy requirements of fish, but limitations in aerobic performance make it difficult to adapt to high temperatures. Aerobic performance may become an increasingly important factor for salmon in warming habitats,” Prokkola says.

Studying the genetic and physiological factors that influence age at sexual maturity is important to understanding the changes that occur in salmon populations.

Source:

Journal reference:

Prokkola, JM, et al. (2022) Genetic coupling of life history and aerobic performance in Atlantic salmon. Proceedings of the Royal Society of London B Biological Sciences. doi.org/10.1098/rspb.2021.2500.

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A genetic link shared between Alzheimer’s disease and severe COVID-19 https://geneticscienceservices.com/a-genetic-link-shared-between-alzheimers-disease-and-severe-covid-19/ Tue, 16 Nov 2021 08:00:00 +0000 https://geneticscienceservices.com/a-genetic-link-shared-between-alzheimers-disease-and-severe-covid-19/ Alzheimer’s disease (AD) and severe COVID-19 share genetic risk factor, study results published in journal Brain indicate that a genetic variant previously associated with severe COVID-19 findings is also associated with an increased risk of AD. Previous studies have shown an association between oligoadenylate synthetase 1 (OAS1), an antiviral gene expressed in microglia, with an […]]]>


Alzheimer’s disease (AD) and severe COVID-19 share genetic risk factor, study results published in journal Brain indicate that a genetic variant previously associated with severe COVID-19 findings is also associated with an increased risk of AD.

Previous studies have shown an association between oligoadenylate synthetase 1 (OAS1), an antiviral gene expressed in microglia, with an increased risk of AD.

Using the genotyping of 1313 patients (mean age at death, 76.7 years; 60.9% women) with sporadic AD and 1234 control individuals (mean age at death, 72.6 years; 53% women ), the researchers evaluated 4 variants of the OAS1 gene that slows down its expression: rs1131454 and rs4766676 (associated with AD) and rs10735079 and rs6489867 (associated with severe illness with COVID-19).


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Analysis indicated that genetic variants within OAS1 associated with AD show a linkage imbalance with severe disease-associated variants in COVID-19.

Study of the transcriptome expressed by microglia and macrophages has indicated gene co-expression networks made up of genes in interferon response pathways. The data suggests that OAS1 is expressed alongside interferon-sensitive genes in microglia and alveolar macrophages, and may play a role in the interferon response in both myeloid subtypes. This response is upregulated during severe cases of COVID-19, aging, and amyloid disease.

reversal of OAS1 expression using small interfering RNAs resulted in exaggerated production of pro-inflammatory cytokines with interferon gamma stimuli, suggesting that upregulation of interferon-sensitive genes with age may attenuate age-related damage by limiting pro-inflammatory signaling. Dysfunction of interferon signaling with a blunt response against pathogens secondary to genetic variants is associated with an increased risk of developing AD and severe COVID-19.

“[O]Our data support a link between the genetic risk of Alzheimer’s disease and susceptibility to serious illness with COVID-19 focused on OAS1, a discovery with potential implications for future treatments for Alzheimer’s disease and COVID-19, and the development of biomarkers to track disease progression, ”the researchers concluded.

Disclosure: One study author reported affiliations with biotech, pharmaceutical, and / or device companies. Please see the original reference for a full list of author disclosures.

Reference

Magusali N, Graham AC, Piers TM, et al. A genetic link between the risk of Alzheimer’s disease and the serious consequences of COVID-19 via the OAS1 uncomfortable. Brain. Published online October 7, 2021. doi: 10.1093 / brain / awab337


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Data from Utah patients helps find genetic link to vertigo, researchers report https://geneticscienceservices.com/data-from-utah-patients-helps-find-genetic-link-to-vertigo-researchers-report/ https://geneticscienceservices.com/data-from-utah-patients-helps-find-genetic-link-to-vertigo-researchers-report/#respond Wed, 20 Oct 2021 19:15:23 +0000 https://geneticscienceservices.com/data-from-utah-patients-helps-find-genetic-link-to-vertigo-researchers-report/ The discovery could lead to treatment for millions of Americans with balance problems. (Intermountain Healthcare) Astros Skuladottir, a genetic researcher at CODE in Reykjavik, Iceland, speaks to reporters on October 20, 2021, describing the study she led, which found six genetic variants linked to vertigo – a study that used data from Utahns that went […]]]>


The discovery could lead to treatment for millions of Americans with balance problems.

(Intermountain Healthcare) Astros Skuladottir, a genetic researcher at CODE in Reykjavik, Iceland, speaks to reporters on October 20, 2021, describing the study she led, which found six genetic variants linked to vertigo – a study that used data from Utahns that went into Intermountain Healthcare’s HerediGene DNA project.

Researchers in Utah and Iceland have found variants in the human genome that can determine who has vertigo – a finding that could help better diagnose and treat the condition that causes dizziness and problems with balance in millions of Americans.

Scientists – some of them working for Utah-based Intermountain Healthcare, as well as Reykjavik, Iceland-based CODE Genetics – have discovered six common genetic variants associated with vertigo.

The study used DNA data collected in the United States, Iceland, the United Kingdom and Finland – comparing data from 48,000 people with vertigo with some 895,000 people who do not, said Astros Skuladottir, principal investigator of the study, speaking to reporters Wednesday from the deCODE offices in Iceland during a virtual press conference hosted by Intermountain.

Some of this data came from HerediGene: Population Study, a program launched in 2019 by Intermountain and deCODE, a subsidiary of biopharmaceutical giant Amgen.

The results were published on October 7. in the journal Communications Biology, published by Nature.

Vertigo affects nearly 40% of the American population at some point in their lives, according to Intermountain. It is one of the leading causes of falls and bone fractures, which accounts for tens of thousands of emergency room visits each year.

Stephanie Nay, an Intermountain employee who has had bouts of vertigo over the past few years, described the sensation as if she was “marking in a tunnel that circled around me”.

Nay is one of more than 80,000 people who donated a blood sample to the HerediGene study, which aims to collect more than half a million DNA samples from people in Utah and Idaho. Intermountain presents the program as the largest and most comprehensive single-population DNA mapping effort in the United States.

Finding the genetic cause of vertigo can lead to finding a cure, said deCODE Founder and CEO Dr Kári Stefánsson. “If you show that a disease is caused by an upgrade of a [genetic] path, you can then develop a drug to downgrade that same path, ”Stefansson said.

The vertigo study, said Skuladottir, “really shows the importance of this collaborative work – to use the large datasets we have and combine them to find sequence variants and the biological foundations of diseases.”

The vertigo study found that none of the six genetic variants were associated with hearing loss, and only one was associated with age-related hearing loss, Skuladottir said. This is important because the vestibular system, in the inner ear, regulates the sense of balance.

Finding a genetic link for vertigo can also help doctors trying to diagnose strokes and heart attacks, said Dr. Kirk Knowlton, chair of the cardiovascular research department at the Intermountain Heart Institute.

Many people with cardiovascular distress complain of dizziness, Knowlton said. But dizziness can come in two ways – the feeling of “spinning” dizziness or fainting from lack of blood to the brain – and patients may not be able to tell the difference when this occurs, he said. -he declares. So if a doctor knows if a patient has the genetic variants that indicate dizziness, it can speed up the diagnosis of a cardiovascular problem, he said.

Dr Lincoln Nadauld, vice president and chief of precision health and academics at Intermountain, said this study is the first time that data from the HerediGene program has been used to find a genetic link to a particular disease.

“I wouldn’t have guessed that vertigo is what we would find first,” Nadauld said. Nadauld and Stefánsson said more studies using data from HerediGene are ongoing and may reveal genetic links to other disorders.


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A genetic link between COVID-19 and Alzheimer’s identified https://geneticscienceservices.com/a-genetic-link-between-covid-19-and-alzheimers-identified/ https://geneticscienceservices.com/a-genetic-link-between-covid-19-and-alzheimers-identified/#respond Mon, 11 Oct 2021 16:01:50 +0000 https://geneticscienceservices.com/a-genetic-link-between-covid-19-and-alzheimers-identified/ Share on PinterestNew study finds genetic bridge between Alzheimer’s disease and COVID-19. Ni Hasen / EyeEm / Getty Images Scientists have identified a genetic link between the development of Alzheimer’s disease and the severe consequences of COVID-19. A new study identifies the same changes in the immune system in both diseases. Targeting specific ‘at risk’ […]]]>


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New study finds genetic bridge between Alzheimer’s disease and COVID-19. Ni Hasen / EyeEm / Getty Images
  • Scientists have identified a genetic link between the development of Alzheimer’s disease and the severe consequences of COVID-19.
  • A new study identifies the same changes in the immune system in both diseases.
  • Targeting specific ‘at risk’ genes could lead to future treatments for Alzheimer’s disease and COVID-19.

Alzheimer’s disease is the most common form of dementia, a syndrome in which cognitive function gradually declines over time.

According to World Health Organization (WHO), more than 55 million people suffer from dementia worldwide, and doctors diagnose 10 million new cases each year. About 60 to 70% of them are cases of Alzheimer’s.

Stay informed with live updates on the current COVID-19 outbreak and visit our coronavirus hub for more advice on prevention and treatment.

“While Alzheimer’s disease is primarily characterized by a harmful build-up of amyloid proteins and tangles in the brain, there is also significant inflammation in the brain which highlights the importance of the immune system in Alzheimer’s disease. “, Explain Dr Dervis Salih.

Dr Salih is Senior Research Associate in Neurodegenerative Diseases at University College London (UCL).

In previous work by UCL, genetic studies found that different genes can alter the risk of developing Alzheimer’s disease. These “risk genes” change the way microglia, or immune cells in the brain, respond to amyloid protein and tangles.

Scientists focused on a subpopulation of microglial cells called response to interferon microglia (MRI), which increase with age and in response to amyloid proteins.

MRI cells respond to interferon proteins that the body releases to fight viral infections, such as SARS-CoV-2.

According to Dr Rosa Sancho, head of research at Alzheimer’s Research UK, “Fairy at the start of the pandemic, people with dementia emerged as a particular risk group for severe COVID-19. “

Current results, published in the journal Brain, build on previous work by Dr. Salih.

The new study, led by Naciye Magusali, a doctoral student at UCL, focused on the genotyping of 2,547 human DNA samples. Of these, 1313 were from people diagnosed with Alzheimer’s disease and 1234 were from controls without Alzheimer’s disease.

The authors identified a variant of the oligoadenylate synthetase 1 gene stimulated by interferon (OAS1) which may increase the risk of developing Alzheimer’s disease by approximately 11–22%.

Scientists have also shown that OAS1, which regulates inflammatory proteins, contributes to the genetic risk associated with serious consequences of COVID-19.

According to the present study, cells treated to mimic the effects of COVID-19 showed lower expression of OAS1.

Dr Salih Explain: “The variant in OAS1 associated with the disease decreases OAS1 expression. This supports the idea that people with high levels of OAS1 are more likely to have a chronic response to cytokines or ‘cytokine storm. ‘”

Work shows that the body needs OAS1 to reduce the amount of protein causing inflammation. According to Dr Salih:

“We see in […] microglial cells that OAS1 suppresses the pro-inflammatory function of cells in response to high levels of interferon.

These results show the importance of inflammation in both the progression of Alzheimer’s disease and the severity of COVID-19.

Speaking of the new research, Dr Sancho points out this “[w]We don’t know if the effects of this risk gene could influence the long-term neurological consequences of COVID-19 or if COVID-19 […] increases the risk of dementia later in life.

Dr David Strain, clinical lecturer at the University of Exeter in the United Kingdom, comments: “This adds important information as to the pathogenesis of the more severe presentations of COVID-19 and, hopefully, may shed light on potential treatment options or even personalized preventive medicine.”

For live updates on the latest developments regarding the novel coronavirus and COVID-19, click here.



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Stroke: Symptoms Causes Include Genetic Link https://geneticscienceservices.com/stroke-symptoms-causes-include-genetic-link/ https://geneticscienceservices.com/stroke-symptoms-causes-include-genetic-link/#respond Tue, 05 Oct 2021 07:00:00 +0000 https://geneticscienceservices.com/stroke-symptoms-causes-include-genetic-link/ A stroke is a serious, life-threatening illness that occurs when the blood supply to part of the brain is interrupted. Stroke remains one of the leading causes of death in the UK, so researchers are actively trying to understand the risk factors that contribute to it. A new study has shed light on a previously […]]]>


A stroke is a serious, life-threatening illness that occurs when the blood supply to part of the brain is interrupted. Stroke remains one of the leading causes of death in the UK, so researchers are actively trying to understand the risk factors that contribute to it. A new study has shed light on a previously unknown risk factor for an uncommon type of stroke: cerebral venous thrombosis (CVT).

CVT is a blood clot from a cerebral vein in the brain, accounting for less than one percent of all stroke cases worldwide.

New research from a consortium led by Royal Holloway, University of London, identified the first genetic link for CVT.

Although many risk factors have previously been reported to contribute to CVT in adults, its genetic basis has not been well understood.

In this study, researchers were able to identify the first chromosomal region strongly associated with genetic susceptibility to CVT: the ABO gene – a gene that determines individual blood group status.

READ MORE: Stroke: Lifestyle-modifiable factor increases your risk by 90% – new study

To study the association, 882 Europeans diagnosed with CVT (and a control group of 1205 individuals of similar demographic characteristics without CVT) participated in the genome study.

By identifying an area of ​​the human genome that strongly correlated with CVT, the researchers found that this region more than doubled the likelihood of CVT: a higher risk than any previously identified genetic risk marker.

Researchers were also able to show that people with AB blood type were 5.6 times more likely to develop CVT than those with O blood type.

Professor Pankaj Sharma, Director of the Cardiovascular Research Institute at Royal Holloway, University of London, said: “CVT is a form of stroke that affects young people, especially women.

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Our work, which has lasted for 10 years, brings together a global international collaboration that has identified a risk factor, as simple as a person’s blood type, and presents a major advance in the prediction and understanding of the mechanism of this disease.

“Needless to say, CVT has entered the public domain following its association with the AstraZeneca COVID-19 vaccine.

“It remains to be seen whether an individual’s blood group status affects their risk of developing CVT after the vaccine. “

Other risk factors for CVD

According to an article published in the British Medical Journal (BMJ)Another important risk factor for CVT is oral contraceptives that contain estrogen.

The main symptoms of stroke can be recalled with the word FAST:

  • Face – the face may have fallen to one side, the person may not be able to smile, or their mouth or eyes may have fallen.
  • Arms – the person may not be able to lift and hold both arms due to weakness or numbness in one arm
  • Speech – their speech may be scrambled or scrambled, or the person may not be able to speak at all despite appearing awake; they may also have difficulty understanding what you are telling them
  • Time – it’s time to dial 999 immediately if you notice any of these signs or symptoms.
  • It is important that everyone is aware of these signs and symptoms, especially if you live with or are caring for someone who is in a high risk group.

High-risk groups include the elderly or people with diabetes or high blood pressure, according to the NHS.

Symptoms of the FAST test identify most strokes, but sometimes a stroke can cause different symptoms.

Other signs and symptoms may include:

  • Complete paralysis on one side of the body
  • Sudden loss or blurred vision
  • Dizziness
  • Confusion
  • Difficulty understanding what others are saying
  • Balance and coordination problems
  • Difficulty swallowing (dysphagia)
  • A sudden, very severe headache resulting in blinding pain like never before
  • Loss of consciousness.


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Left-handed and brain asymmetry: a genetic link https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link-2/ https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link-2/#respond Sat, 07 Aug 2021 07:00:00 +0000 https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link-2/ Why are some people left-handed? About 10.6% of people are left-handed (Papadatou-Pastou et al., 2020) but what causes awkwardness is still not fully understood. One thing is clear, is that laterality is not caused by the hands. It is totally impossible to tell if a person is left or right handed just by looking at […]]]>


Why are some people left-handed?

About 10.6% of people are left-handed (Papadatou-Pastou et al., 2020) but what causes awkwardness is still not fully understood. One thing is clear, is that laterality is not caused by the hands. It is totally impossible to tell if a person is left or right handed just by looking at their hands. There are no obvious differences between the bones, muscles, tendons and other parts that make up the hands of left-handed and right-handed people.

Instead, the predominance is caused by the central nervous system, for example the brain and spinal cord. Laterality is one of the many left-right functional differences in the brain. Specifically, in lefties, the motor cortex on the right side of the brain (the left side of the body is controlled by the right side of the brain, and vice versa) is dominant for fine motor behavior like writing with a pen. In contrast, in right-handed people, the left motor cortex is better for such tasks.

Investigate the link between awkwardness and asymmetries in brain structure

This discovery led researchers on laterality to an intriguing question: Could these asymmetries in brain structure be relevant to asymmetries in brain function, such as laterality?

A new study, now uploaded to the bioRxiv preprint server, focused on answering this question by examining both the structural differences in the brain between left-handed and right-handed people and the genetic link between laterality and body structure. brain (Sha et al., 2021). In the study, researchers analyzed brain imaging data from 28,802 right-handed and 3,062 left-handed people that were obtained from UK Biobank. The UK Biobank is a large body of psychological and neuroimaging data obtained from volunteers in the UK and made available to trained scientists around the world. The UK Biobank has the huge advantage of containing data from far more participants than any scientist can get in a reasonable amount of time when acquiring data from volunteers themselves. Because of this large sample size, researchers may be more confident in the results obtained from the UK Biobank data than if they collected a few dozen datasets themselves. This is because the results of larger data sets are less influenced by individual participants who exhibit unusual outcome patterns and therefore replicate better in other samples.

In the study, the researchers analyzed asymmetries in brain structure across the brain for their dataset, as well as genetic variation related to workability and brain structure and the overlap between the two.

What did the researchers find?

The researchers found that left-handers exhibited a right-shifting hemispherical structural cortical surface asymmetries in eight areas of the brain and a right-shifting hemispherical structural asymmetries in cortical thickness in two areas of the brain. This right-handed shift in asymmetries in left-handers suggests that left-handedness is associated with a shift in neural resources to the motor-dominant right hemisphere (the right side of the brain controls the left side of the body and vice versa). Functionally, these brain areas were linked to motor functions, but also to so-called executive functions, for example a range of higher cognitive abilities such as decision-making, vision and language.

Second, the researchers studied which genetic factors were linked to asymmetries in brain structure in areas of the brain that showed differences between left-handed and right-handed people. They found that for two regions of the brain, an increased genetic disposition for left-handedness was significantly associated with a right-shift in brain asymmetries, suggesting a genetic link between left-handedness and asymmetries in brain structure. In addition, 18 different locations in the genome that had previously been associated with awkwardness were associated with asymmetries in the structure of the brain. Interestingly, six of the genes (called TUBB, TUBA1B, TUBB3, TUBB4A, MAP2, and NME7) associated with the identified locations in the genome were functionally relevant for microtubules. Microtubules play a role in early brain development because they are important for the cytoskeleton, which provides structure and shape to nerve cells and other cells. It is important to note that microtubules have also been associated with determining the left-right axis in the brain during early development. This suggests that the early developmental processes that determine the left and right sides of the brain link left-handedness and asymmetries in the structure of the brain.

Conclusion

In conclusion, the study showed that awkwardness and asymmetries in the structure of the brain are related. Left-handed people show a shift in cerebral asymmetries towards their motor-dominant right side. Genetic analyzes suggest that the developmental processes that determine the left and right sides of the nervous system represent the functional link between left-handedness and asymmetries in the structure of the brain.


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Left-handed and brain asymmetry: a genetic link https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link/ https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link/#respond Sat, 07 Aug 2021 07:00:00 +0000 https://geneticscienceservices.com/left-handed-and-brain-asymmetry-a-genetic-link/ Why are some people left-handed? About 10.6% of people are left-handed (Papadatou-Pastou et al., 2020) but what causes awkwardness is still not fully understood. One thing is clear, is that laterality is not caused by the hands. It is totally impossible to tell if a person is left or right handed just by looking at […]]]>


Why are some people left-handed?

About 10.6% of people are left-handed (Papadatou-Pastou et al., 2020) but what causes awkwardness is still not fully understood. One thing is clear, is that laterality is not caused by the hands. It is totally impossible to tell if a person is left or right handed just by looking at their hands. There are no obvious differences between the bones, muscles, tendons and other parts that make up the hands of left-handed and right-handed people.

Instead, the predominance is caused by the central nervous system, for example the brain and spinal cord. Laterality is one of the many left-right functional differences in the brain. Specifically, in lefties, the motor cortex on the right side of the brain (the left side of the body is controlled by the right side of the brain, and vice versa) is dominant for fine motor behavior like writing with a pen. In contrast, in right-handed people, the left motor cortex is better for such tasks.

Investigate the link between awkwardness and asymmetries in brain structure

This discovery led researchers on laterality to an intriguing question: Could these asymmetries in brain structure be relevant to asymmetries in brain function, such as laterality?

A new study, now uploaded to the bioRxiv preprint server, focused on answering this question by examining both the structural differences in the brain between left-handed and right-handed people and the genetic link between laterality and body structure. brain (Sha et al., 2021). In the study, researchers analyzed brain imaging data from 28,802 right-handed and 3,062 left-handed people that were obtained from UK Biobank. The UK Biobank is a large body of psychological and neuroimaging data obtained from volunteers in the UK and made available to trained scientists around the world. The UK Biobank has the huge advantage of containing data from far more participants than any scientist can get in a reasonable amount of time when acquiring data from volunteers themselves. Because of this large sample size, researchers may be more confident in the results obtained from the UK Biobank data than if they collected a few dozen datasets themselves. This is because the results of larger data sets are less influenced by individual participants who exhibit unusual outcome patterns and therefore replicate better in other samples.

In the study, the researchers analyzed asymmetries in brain structure across the brain for their dataset, as well as genetic variation related to workability and brain structure and the overlap between the two.

What did the researchers find?

The researchers found that left-handers exhibited a right-shifting hemispherical structural cortical surface asymmetries in eight areas of the brain and a right-shifting hemispherical structural asymmetries in cortical thickness in two areas of the brain. This right-handed shift in asymmetries in left-handers suggests that left-handedness is associated with a shift in neural resources to the motor-dominant right hemisphere (the right side of the brain controls the left side of the body and vice versa). Functionally, these brain areas were linked to motor functions, but also to so-called executive functions, for example a range of higher cognitive abilities such as decision-making, vision and language.

Second, the researchers studied which genetic factors were linked to asymmetries in brain structure in areas of the brain that showed differences between left-handed and right-handed people. They found that for two regions of the brain, an increased genetic disposition for left-handedness was significantly associated with a right-shift in brain asymmetries, suggesting a genetic link between left-handedness and asymmetries in brain structure. In addition, 18 different locations in the genome that had previously been associated with awkwardness were associated with asymmetries in the structure of the brain. Interestingly, six of the genes (called TUBB, TUBA1B, TUBB3, TUBB4A, MAP2, and NME7) associated with the identified locations in the genome were functionally relevant for microtubules. Microtubules play a role in early brain development because they are important for the cytoskeleton, which provides structure and shape to nerve cells and other cells. It is important to note that microtubules have also been associated with determining the left-right axis in the brain during early development. This suggests that the early developmental processes that determine the left and right sides of the brain link left-handedness and asymmetries in the structure of the brain.

Conclusion

In conclusion, the study showed that awkwardness and asymmetries in the structure of the brain are related. Left-handed people show a shift in cerebral asymmetries towards their motor-dominant right side. Genetic analyzes suggest that the developmental processes that determine the left and right sides of the nervous system represent the functional link between left-handedness and asymmetries in the structure of the brain.


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Direct genetic link to autism spectrum disorders https://geneticscienceservices.com/direct-genetic-link-to-autism-spectrum-disorders/ https://geneticscienceservices.com/direct-genetic-link-to-autism-spectrum-disorders/#respond Mon, 19 Jul 2021 07:00:00 +0000 https://geneticscienceservices.com/direct-genetic-link-to-autism-spectrum-disorders/ H3K9 cerebellar methylation levels were lower in Suv39h2-deficient mice than in control mice.Credit: RIKEN A new study from the RIKEN Brain Science Institute (CBS) in Japan shows that the lack of methylation of histones can lead to the development of autism spectrum disorders (ASD). A human variant of the SUV39H2 gene led researchers to study […]]]>


H3K9 cerebellar methylation levels were lower in Suv39h2-deficient mice than in control mice.Credit: RIKEN

A new study from the RIKEN Brain Science Institute (CBS) in Japan shows that the lack of methylation of histones can lead to the development of autism spectrum disorders (ASD). A human variant of the SUV39H2 gene led researchers to study its deficiency in mice. Molecular psychiatryThe study found that in the absence, adult mice exhibited cognitive flexibility similar to that seen in autism, and embryonic mice exhibited spurious expression of genes associated with brain development. The results of these surveys are SUV39H2 Genes and TSA.

Genes are turned on and off throughout our development. Corn Genetic variation This means that what is turned off in some people stays on in others. This is why, for example, some adults can digest dairy products and others are lactose intolerant. The genes that make the lactase enzyme are turned off in some people as they grow older, but not in others. uncomfortable It can be turned on and off through a process called histone methylation. In this process, a special enzyme transfers the methyl group to the histone protein wrapped around DNA.

Mutations in genes associated with methylation during brain development can cause serious problems. One of these mutations occurs in a rare disease called Criefstra syndrome, in which the mutation interferes with the methylation of H3K9, a specific location of the H3 histone. Because Kleefstra syndrome resembles autism in some ways, researchers at RIKEN CBS, led by Takeo Yoshikawa, looked for an autism-specific mutation in a gene that could alter H3K9. Among those nine genes, they found SUV39H2, a variant of the H3K9 methyltransferase gene found in autism, and the mutated SUV39H2 prevented methylation in lab tests. .. Similar loss of function results were seen in the mouse version of the variant.

Behavioral sequence tasks for learning and flexibility at your own pace. Indicates the opposite reward corner where the mouse should move back and forth. In a task, meeting a successful visit rate criterion on a diagonal will alternate the reward corners on the opposite side of the diagonal with the other. For other tasks, only one of the two previously rewarded coins will be reversed. When these two tasks were mixed (continuous inversion learning), mice deficient in Suv39h2 had difficulty adapting to rule changes.Credit: RIKEN

The next step was to see what happens in the mice lacking the Suv39h2 gene. Behaviorally, the researchers found that mice could learn simple cognitive tasks, but were difficult when the tasks required cognitive flexibility. In a simple task, the mouse learned to earn rewards by alternately opening the diagonal corners of the cage and piercing the door. After successfully doing this well, the possible reward slots are moved to the other two diagonal corners. Genetically engineered mice did it the same way as wild type mice. In another task, after learning how to switch between the two diagonal corners, only one reward slot was changed. The wild-type mice were able to adapt quickly when the mice were challenged to alternate randomly between these two tasks, but the Suv39h2-deficient mice took much longer. “This continuous inversion learning task was essential,” says lead author Shabeesh Balan. “Cognitive inflexibility is a central symptom of ASD, and our new task addressed this behavioral characteristic in a way that was not possible in previous mouse studies.”

The researchers looked at what happened in the mouse brain when H3K9 methylation did not occur and found that experimental mice turn on important genes that are usually silent early in development. I discovered. “Suv39h2 is known to be expressed early in neurogenesis and from H3K9 methylate,” Yoshikawa explains. “This allows us to check which genes need to be turned off, but without them the β-cluster genes of Protocadherin would have been abnormally expressed at high levels in the embryo. MouseBecause Protocadherins are important in forming neural circuits, researchers believe they have discovered important biological pathways that may be at the heart of certain neurodevelopmental disorders.

The team then examined the importance of SUV39H2 in human ASDs by finding that expression of SUV39H2 is lower in the postmortem brain of people with ASD than in controls. “What started as a loss-of-function mutation in a single person with ASD has led to a situation that is a common cause of ASD leading to abnormalities in brain circuits,” Yoshikawa explains.

Protocadherin has previously been proposed to be associated with a wide range of psychiatric disorders. This study shows that activation of the SUV39H2 gene is a potential treatment for psychiatric disorders, including ASD, and needs to be further investigated in future studies.


Important brain molecules may play a role in many brain disorders


For more information:
Shabeesh Balan et al, a loss-of-function mutant of SUV39H2 identified in autism spectrum disorders, causes altered H3K9 trimethylation and deregulation of the β-cluster protoadherin gene in the developing brain. Molecular psychiatry (2021). DOI: 10.1038 / s41380-021-01199-7

Quote: SUV39H2: https: //medicalxpress.com/news/2021-07-suv39h2-genetic-link-autism-spectrum.html Acquired July 19, 2021 from Autism Spectrum Disorders (July 19, 2021) Direct genetic link to (July )

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Genetic link to autism could be rooted in the cerebellum https://geneticscienceservices.com/genetic-link-to-autism-could-be-rooted-in-the-cerebellum/ https://geneticscienceservices.com/genetic-link-to-autism-could-be-rooted-in-the-cerebellum/#respond Sat, 17 Jul 2021 07:00:00 +0000 https://geneticscienceservices.com/genetic-link-to-autism-could-be-rooted-in-the-cerebellum/ Cerebellum seen here in orange. cerebellar means “relating to the cerebellum”. The cerebral-cerebellar circuits connect the brain and the cerebellum. Source: SciePro / Shutterstock A pioneering new study involving both humans and mice by researchers at the RIKEN Center for Brain Science in Japan has identified a direct genetic link between the SUV39H2 gene – […]]]>


Cerebellum seen here in orange. cerebellar means “relating to the cerebellum”. The cerebral-cerebellar circuits connect the brain and the cerebellum.

Source: SciePro / Shutterstock

A pioneering new study involving both humans and mice by researchers at the RIKEN Center for Brain Science in Japan has identified a direct genetic link between the SUV39H2 gene – which influences neurodevelopment of the cerebellum – and an autism spectrum disorder.

This discovery represents the first time that neuroscientists have identified a direct link between the SUV39H2 gene and ASDs. These discoveries (Balan et al., 2021) were published on July 15 in Molecular Psychiatry.

Throughout the process of neurodevelopment, genes are turned on and off in different ways. A complex process called ‘histone methylation’ is one way to turn genes related to brain development on and off. This study suggests that the absence of functional SUV39H2 genes in the developing brain alters methylation of a specific histone (H3K9) in the cerebellum, creating neurodiversity.

    Photo credit to RIKEN

H3K9 methylation levels in the cerebellum were lower in SUV39H2-deficient mice than in control mice.

Source: Photo credit to RIKEN

SUV39H2 turns off genes necessary for healthy development of the cerebellum

In mice, the researchers found that if H3K9 methylation did not occur due to a “loss-of-function variant in SUV39H2,” it triggered the “deregulation of the β-cluster genes of Protocadherin in the brain by development ”in a way that prevented the silencing of genes necessary for healthy neurodevelopment. Without the robust methylation triggered by SUV39H2, genes that should have been turned off in the cerebellum remained active.

“SUV39H2 is known to be expressed early in neurodevelopment and to methylate H3K9,” lead author Takeo Yoshikawa explained in a July 16 article. Press release. “This helps control which genes should be turned off. But without it, genes from the protocadherin group were abnormally expressed at high levels in embryonic mice.”

Mice with SUV39H2 Deficits Display ASD-like Cognitive Inflexibility

Notably, in behavioral tests, RIKEN researchers found that experimental “knockout” mice with SUV39H2 deficiencies could learn a simple cognitive task, but struggled with mouse-related tasks that required cognitive flexibility.

“SUV39H2-knockout mice displayed hyperactivity and reduced behavioral flexibility in learning tasks requiring complex behavioral adaptation, which is relevant for ASD,” the authors explain in the abstract of the article. “The SUV39H2 deficiency suggested an elevated expression of a subset of Protocadherin (Pcdhb) cluster genes in the embryonic brain, which is attributable to the loss of H3K9 (me3) trimethylation at the promoters of the gene. The reduction of H3K9me3 persisted in the cerebellum of SUV39H2-deficient mice into an adult stage. “

Post-mortem brain scan reveals SUV39H2 deficits in humans with ASD

In the second phase of this experiment, the RIKEN team performed a post-mortem brain scan of individuals who were diagnosed with autism spectrum disorder during their lifetime and found that the brains of people with ASD had deficiencies. significant in SUV39H2 compared to healthy controls. “What started as a loss-of-function mutation in a single person with ASD has led to a general causal landscape for ASD that results in brain circuit abnormalities,” Yoshikawa noted.

“The present study provides direct evidence for the role of SUV39H2 in ASD and suggests a molecular cascade of SUV39H2 dysfunction leading to H3K9me3 deficiency followed by spurious and elevated expression of Pcdhb cluster genes early in neurodevelopment”, the authors conclude.

Future studies should determine whether activating the SUV39H2 gene is an effective treatment for preventing or treating autism spectrum disorders.

RIKEN photo of H3K9 methylation levels in the cerebellum via EurekAlert


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