Genetic link – Genetic Science Services http://geneticscienceservices.com/ Thu, 15 Sep 2022 16:32:52 +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 identified for chronic fatigue syndrome could advance treatment https://geneticscienceservices.com/genetic-link-identified-for-chronic-fatigue-syndrome-could-advance-treatment/ Thu, 15 Sep 2022 16:32:52 +0000 https://geneticscienceservices.com/genetic-link-identified-for-chronic-fatigue-syndrome-could-advance-treatment/ UK-based PrecisionLife announced on Wednesday that it has found a genetic link to myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Around 17 million people worldwide suffer from chronic fatigue syndrome (CFS), with symptoms including malaise, fatigue, chronic pain and cognitive impairment. There are no drugs to directly treat, let alone cure, CFS and patients are routinely prescribed […]]]>

UK-based PrecisionLife announced on Wednesday that it has found a genetic link to myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

Around 17 million people worldwide suffer from chronic fatigue syndrome (CFS), with symptoms including malaise, fatigue, chronic pain and cognitive impairment. There are no drugs to directly treat, let alone cure, CFS and patients are routinely prescribed painkillers, antidepressants and other medications to relieve symptoms.

PrecisionLife said the research could lead to better diagnostics and treatments for a notoriously difficult to diagnose and treat disease.

The study could also lead to new drugs and treatments for a wide range of diseases linked to chronic fatigue, such as multiple sclerosis and autoimmune diseases.

The researchers also found 199 mapped single nucleotide polymorphisms across 14 genes “that were significantly associated with 91% of cases in the ME/CFS population,” PrecisionLife noted in its announcement.

The researchers used data from the UK Biobank and used combinatorial analysis, which examines the relationship and interactions between multiple genes. Most genetic diseases are complex and involve more than a single gene.

PrecisionLife analyzes “huge multidimensional datasets and accurately models the behavior of complex systems.”

The data has been submitted for publication and is available on the pre-publication site Medrxiv. It is presented Thursday at the ME Genetics Research Summit organized by Action for ME and the MRC Human Genetics Unit at the University of Edinburgh.

Sonya Chowdhury, chief executive of patient advocacy group Action for ME, said the research could lead to the first real treatments for chronic fatigue.

“These are exciting findings from PrecisionLife that could be used to develop diagnostic biomarkers and uncover new drug targets and precision repositioning opportunities in the future,” Chowdhury said in a statement. “If successful, these could be used to create the first therapeutic options for this debilitating disease.”

Many genes are associated with vulnerabilities to stress and infection, mitochondrial dysfunction, sleep disturbances, and autoimmune development.

The study also identified similarities to PrecisionLife genes that have been shown to be associated with multiple sclerosis and Long COVID. Some researchers also believe that some COVID patients can develop CFS.

PrecisionLife researchers are studying the link between COVID-19 and chronic fatigue and have identified three genes with a potential link.

The company said it would dive into more data using the same combinatorial analysis from the DecodeME study, the largest ME/CFS genetic study, with more than 20,000 participants.

“These groundbreaking results offer new hope for developing effective precision medicines for people with ME/CFS worldwide,” Precision Medicine CEO Steve Gardner said in the announcement.

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AIIMS Director Speaks About the Genetic Link of Clubfeet at the Central Zone Orthopedic Association Annual Meeting https://geneticscienceservices.com/aiims-director-speaks-about-the-genetic-link-of-clubfeet-at-the-central-zone-orthopedic-association-annual-meeting/ Sun, 04 Sep 2022 16:21:06 +0000 https://geneticscienceservices.com/aiims-director-speaks-about-the-genetic-link-of-clubfeet-at-the-central-zone-orthopedic-association-annual-meeting/ Bhopal (Madhya Pradesh): The annual conference of the Central Area Orthopedic Association was held here on Sunday. Executive Director, AIIMS, Bhopal, Dr. Ajay Singh was the guest speaker. He spoke about translational research in pediatric orthopedics. His research on the study of the COL9A1 polymorphism in clubfoot: a study of the parent-child dyad has been […]]]>

Bhopal (Madhya Pradesh): The annual conference of the Central Area Orthopedic Association was held here on Sunday. Executive Director, AIIMS, Bhopal, Dr. Ajay Singh was the guest speaker.

He spoke about translational research in pediatric orthopedics. His research on the study of the COL9A1 polymorphism in clubfoot: a study of the parent-child dyad has been appreciated.

The most common problems faced by children are foot deformities, gait disturbances and hip dysplasia. Problems can be hereditary, congenital or acquired. Early diagnosis can help prevent an orthopedic problem in childhood and can ensure faster and better treatment.

According to doctors, pediatric orthopedics generally covers the same sub-specialties as adult orthopedics, but specialists who work in this field have been specifically trained in orthopedic problems that are congenital or acquired in childhood or adolescence.

These conditions change and develop over time, and the body reacts differently depending on the age of the patients. During childhood, muscles and bones continually grow and develop. For this reason, it is important to diagnose any orthopedic condition as early as possible so that it can be treated appropriately.

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World’s first study by Auckland scientists hopes to show genetic link to codeine addiction https://geneticscienceservices.com/worlds-first-study-by-auckland-scientists-hopes-to-show-genetic-link-to-codeine-addiction/ Sat, 03 Sep 2022 17:00:00 +0000 https://geneticscienceservices.com/worlds-first-study-by-auckland-scientists-hopes-to-show-genetic-link-to-codeine-addiction/ Some people are “ultra-rapid metabolizers” of codeine, an opioid. A team of researchers from the University of Auckland believe they are also more likely to abuse drugs and become addicted. reports Tony Wall. Amy Boatman was standing at a bus stop in Auckland when she saw an advertisement for Nurofen Plus, a painkiller containing codeine […]]]>

Some people are “ultra-rapid metabolizers” of codeine, an opioid. A team of researchers from the University of Auckland believe they are also more likely to abuse drugs and become addicted. reports Tony Wall.

Amy Boatman was standing at a bus stop in Auckland when she saw an advertisement for Nurofen Plus, a painkiller containing codeine and ibuprofen which was then available over the counter in pharmacies.

She comes from the United States, where opioid products are only available by prescription. “I was like, ‘Oh my God, can you buy something at the pharmacy that’s an opiate? Holy s…’.”

Boatman had gotten sober after becoming addicted to a similar drug, hydrocodone, in the 90s, but had recently relapsed to alcohol and was vulnerable.

She bought Nurofen Plus and took a few pills for the euphoric effect. Before she knew it, she was taking the whole 12-pack at once.

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“So it wasn’t enough. They also sold them in a pack of 30 – it got to the point where I was taking all 30 pills all at once.

Boatman has always suspected she had a genetic propensity for addiction – “I come from a family of alcoholics and drug addicts” – and is intrigued by a study launched by a team of researchers from the University of Auckland on drug addicts.

Unlike other opioids, codeine is a “prodrug”, which means that it is inactive when taken, but is then modified by the liver to form morphine.

The amount of morphine produced depends on the type of liver enzymes the person has inherited – slow, intermediate or ultra-rapid.

Amy Boatman was addicted to codeine for many years but is now clean.

provided

Amy Boatman was addicted to codeine for many years but is now clean.

Ultra-rapid metabolizers will receive a much larger dose of morphine from a dose of codeine than other people, which will likely make them feel great.

The research team, led by Dr Rhys Ponton from the university’s School of Pharmacy, hypothesizes that these people are more likely to develop problems with the drug.

By examining the types of enzymes present in people who abuse or are addicted to codeine, they hope to determine if this is the case.

In theory, this could help doctors know if a person is at risk of developing an addiction or accidentally overdosing.

The research team is calling on volunteers who take codeine recreationally or think they might be addicted to the drug to enroll in the study, which they say is a world first. They will be asked to do a phone interview and provide a saliva sample by mail.

Boatman says there’s a lot of shame and stigma attached to opioid abuse, and it would be “amazing” if a genetic link could be proven.

“It would be great to be able to show this evidence to other people and say, ‘Look, I’m not morally devoid, there’s a natural, physical reason for this’.”

Codeine was removed from over-the-counter sales, becoming prescription-only, in November 2020 due to concerns about abuse of the drug.

Legal opioid maker OxyContin Purdue Pharma has admitted its role in the opioid epidemic, paid $634 million in fines and pleaded guilty to contributing to thousands of opioid-related deaths

But Ponton says that only a small percentage of people — somewhere between 1 and 5 percent — are ultra-rapid metabolizers of codeine.

If it can be shown that this cohort is most likely to develop problems, he says, it would prove that there is only a low risk of selling codeine over the counter to the general public.

Ponton says this would eliminate the need for people to have to make an appointment with a GP to access codeine, which, due to cost, has created inequality in access to pain relief.

But Boatman says removing codeine from over-the-counter sales was a good move.

“The regulations around it were really lax. I could go to the same pharmacy once a week and get 30 pills. I would shop at a pharmacy – I would know roughly where every pharmacy in the area is.

Boatman would take an entire box of Nurofen Plus at a time.

Kevin Stent / Stuff

Boatman would take an entire box of Nurofen Plus at a time.

“I like the idea of ​​a stronger painkiller being a bit more accessible to people, but it just should have been better regulated.

“Imposing the responsibility on the pharmacist to regulate was too much, they already have too much on their plate.”

Boatman’s codeine abuse lasted nine years and she hid it from his wife. She lost her job when it was discovered that she was asking co-workers to buy her codeine, and she became “unemployable”.

She has chronic stomach problems caused by the ibuprofen in the products she was taking.

Getting fired was the catalyst she needed to clean herself up, and in 2019 she returned to her family in Texas for three months.

“I was 51 and had to go back to live with my parents. It was the humbling experience I needed.

She followed a 12-step program and is now sober.

“There is a lot of shame. It’s like there’s another person in your body doing these things – you just can’t stop.

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A new genetic link confirmed https://geneticscienceservices.com/a-new-genetic-link-confirmed/ Mon, 29 Aug 2022 16:00:34 +0000 https://geneticscienceservices.com/a-new-genetic-link-confirmed/ A genetic link between Alzheimer’s disease and intestinal disorders has been discovered. Credit: Edith Cowan University The groundbreaking research that established the link between Alzheimer’s Disease and gut health may allow for earlier diagnosis and new treatment options. People who have digestive problems may be at higher risk of getting Alzheimer’s disease (AD). The link […]]]>

A genetic link between Alzheimer’s disease and intestinal disorders has been discovered. Credit: Edith Cowan University

The groundbreaking research that established the link between Alzheimer’s Disease and gut health may allow for earlier diagnosis and new treatment options.

People who have digestive problems may be at higher risk of getting Alzheimer’s disease (AD). The link between the two has been verified by a groundbreaking study from Edith Cowan University (ECU), which could also lead to early identification and new treatment options.

The most common form of dementia, AD robs people of their memory and ability to think. More than 82 million people are expected to be affected by it by 2030, costing US$2 trillion, and there is no known cure. It has been hypothesized in previous observational studies that there is a link between Alzheimer’s disease and gastrointestinal disorders, but until recently the mechanisms behind these links have remained unclear.

ECU’s Center for Precision Health recently added to our understanding of these relationships by confirming a genetic link between Alzheimer’s disease and several gut disorders. The research analyzed large genetic datasets on AD and other gut disorder studies, each including around 400,000 participants.

The study’s lead researcher, Dr Emmanuel Adewuyi, said it was the first comprehensive examination of the genetic link between AD and several gut disorders. Researchers have found that people with AD and gut disorders share genes, which is important for a number of reasons.

“The study provides new insight into the genetics behind the observed co-occurrence of Alzheimer’s disease and gut disorders,” Dr Adewuyi said.

“This improves our understanding of the causes of these conditions and identifies new targets to study to potentially detect the disease earlier and develop new treatments for both types of conditions.”

Center for Precision Health director and study supervisor Professor Simon Laws said that although the study did not conclude that gut disorders cause AD or vice versa, the results are extremely valuable.

“These findings provide further evidence supporting the concept of the ‘gut-brain’ axis, a bi-directional link between the cognitive and emotional centers of the brain and the functioning of the gut,” Professor Laws said.

Is cholesterol a key?

When researchers conducted further analysis of shared genetics, they discovered other important links between Alzheimer’s disease and gut disorders, such as the role cholesterol may play.

Dr Adewuyi said abnormal cholesterol levels are a risk for both Alzheimer’s and gut disorders.

“Examination of genetic and biological features common to AD and these intestinal disorders suggests an important role for lipid metabolism, the immune system and cholesterol-lowering drugs,” he said.

“Although further studies are needed on the mechanisms shared between the conditions, there is evidence that high cholesterol can be transferred to the central nervous system, leading to abnormal cholesterol metabolism in the brain.

“There is also evidence to suggest that abnormal blood lipids may be caused or worsened by gut bacteria (H.pylori), all of which support the potential role of abnormal lipids in AD and gut disorders.

“For example, high cholesterol in the brain has been linked to brain degeneration and consequent cognitive impairment.”

Hope for the future

The link to cholesterol could prove vital in the treatment of AD in the future.

Although there is currently no known cure, the study results suggest that cholesterol-lowering drugs (statins) may be therapeutically beneficial in the treatment of AD and bowel disorders.

“Evidence indicates that statins have properties that help reduce inflammation, modulate immunity and protect the gut,” Dr. Adewuyi said.

However, he said more studies were needed and patients should be assessed individually to determine if they would benefit from statin use. Research has also indicated that diet may play a role in the treatment and prevention of Alzheimer’s disease and intestinal disorders.

Reference: “Large-scale genome-wide cross-trait analysis reveals shared genetic architecture between Alzheimer’s disease and disorders of the gastrointestinal tract” by Emmanuel O. Adewuyi, Eleanor K. O’Brien, Dale R. Nyholt, Tenielle Porter, and Simon M. Lois, July 18, 2022, Communications Biology.
DOI: 10.1038/s42003-022-03607-2

The study was funded by the National Council of Health and Medical Research.

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Genetic link claims type 1 diabetes increases risk of hypothyroidism https://geneticscienceservices.com/genetic-link-claims-type-1-diabetes-increases-risk-of-hypothyroidism/ Tue, 23 Aug 2022 13:05:24 +0000 https://geneticscienceservices.com/genetic-link-claims-type-1-diabetes-increases-risk-of-hypothyroidism/ August 23, 2022 1 minute read Source/Disclosures Published by: Disclosures: The authors report no relevant financial information. ADD A SUBJECT TO EMAIL ALERTS Receive an email when new articles are published on Please provide your email address to receive an email when new articles are published on . ” […]]]>

August 23, 2022

1 minute read


Source/Disclosures


Disclosures: The authors report no relevant financial information.


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Data from a Mendelian randomization analysis indicated a causal association between type 1 diabetes and hypothyroidism, leading researchers to recommend that people with type 1 diabetes undergo regular thyroid function tests .

“Our results were based on multiple Mendelian randomization methods, and there was consistency in the estimates of causal effects, indicating that the results are compelling,” Fuzhong Xue, PhDassociate director and professor in the department of epidemiology and biostatistics at Shandong University School of Public Health in Shandong, China, and colleagues wrote.



Thyroid Anatomy 2019

Source: Adobe Stock

The researchers selected independent type 1 diabetes-related single nucleotide polymorphisms with genome-wide significance as instrumental variables from a large genome-wide association study of type 1 diabetes and analyzed with summary statistics on the genome-wide significance of hypothyroidism from the ThyroidOmics Consortium. They used the inverse variance weighted (IVW) method as the main analysis. Methods to confirm the results included Mendelian (MR)-Egger randomization, weighted median method, MR-Robust, and others.

The results revealed that type 1 diabetes was positively, causally associated with hypothyroidism (IVW OR = 1.083; 95% CI, 1.046-1.122; P < .001). In the MR-Egger regression analysis, directional pleiotropy did not bias the result (intercept = 0.006; P = 0.295).

Additionally, an independent validation set confirmed the causal association (IVW OR = 1.099; 95% CI, 1.018-1.186; P = 0.017). Various MRI methods revealed the robustness of the results, whereas data from reverse MRI analysis failed to support reverse causation (P > .05), according to the researchers.

“We have demonstrated that type 1 diabetes is an important risk factor for hypothyroidism, and there is a reasonable biological explanation,” the researchers wrote. “Therefore, patients with type 1 diabetes are recommended to have thyroid function tests performed regularly, to minimize the risk of undiagnosed hypothyroidism in young patients with type 1 diabetes.”

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Genetic link explains comorbid trigger finger and carpal tunnel syndrome https://geneticscienceservices.com/genetic-link-explains-comorbid-trigger-finger-and-carpal-tunnel-syndrome/ Thu, 18 Aug 2022 14:45:00 +0000 https://geneticscienceservices.com/genetic-link-explains-comorbid-trigger-finger-and-carpal-tunnel-syndrome/ A common genetic link is associated with the frequent co-occurrence of trigger finger and carpal tunnel syndrome. Variants to DIRC3 also increase fibroblast activity and correlate with diabetes. These findings were published in The Lancet Rheumatology. Researchers sought to identify a shared genetic predisposition in patients with trigger finger and carpal tunnel syndrome. They conducted […]]]>

A common genetic link is associated with the frequent co-occurrence of trigger finger and carpal tunnel syndrome. Variants to DIRC3 also increase fibroblast activity and correlate with diabetes. These findings were published in The Lancet Rheumatology.

Researchers sought to identify a shared genetic predisposition in patients with trigger finger and carpal tunnel syndrome. They conducted a genome-wide association study of 2,908 trigger-finger patients and 436,579 control participants using prospective cohort data from the UK Biobank (UK).

Researchers obtained fibroblasts from 79 healthy donors, tenosynovium samples after carpal tunnel decompression surgeries in 77 patients, and whole blood samples to extract DNA and plasma concentrations of insulin-like growth factor (IGF-1). Using these samples, they performed genome-wide association analysis, co-localization analysis, fine-mapping analysis, RNA sequencing, and quantitative trait loci analysis d expression (eQTL).


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Genome-wide association analysis revealed that the DIRC3 locus was independently associated with trigger finger and carpal tunnel syndrome. The genetic traits between trigger finger and carpal tunnel syndrome were also strongly correlated.

The co-localization analysis projected an 87% probability that trigger finger and carpal tunnel syndrome shared a causative genetic variant at the DIRC3 venue.

Fine mapping revealed covariates related to DIRC3 expression, including a single nucleotide polymorphism (SNP) at rs62175241 involving regulation of fibroblast activity, and two binding motifs (KLF16 and KLF18) involved in transcription.

Analysis via eQTL showed that the T allele of rs62175241, which protects against trigger finger and carpal tunnel, was also positively correlated with IGFBP5 expression, the transcriptional target of DIRC3.

Researchers have confirmed increased levels of plasma IGF-1 in patients with both trigger finger and carpal tunnel syndrome. They hypothesized that increased fibroblast activity may have contributed to the pathogenesis of trigger finger and carpal tunnel syndrome.

Increased IGF-1 signaling was also correlated with the onset of diabetes. Patients with type 1 and type 2 diabetes and increased hemoglobin A1 C had a higher risk of developing comorbid trigger finger and carpal tunnel syndrome compared with trigger finger or carpal tunnel syndrome alone.

Limitations of the study include a lack of generalizability to patients outside of European ancestry, undersupply for low-frequency variants, and a lack of ability to replicate all 5 trigger finger loci.

“The long-established co-occurrence of trigger finger and carpal tunnel syndrome could be explained at least in part by a shared germline predisposition, which acts to increase IGF-1 signaling in fibroblasts,” the authors conclude. ‘study. “Further research should determine whether this pathway could be a valid target for the pharmacological management of trigger finger and carpal tunnel syndrome.”

Disclosures: Several study authors have disclosed affiliations with biotechnology, pharmaceutical and/or device companies. Please see the original citation for a full list of author disclosures.

Reference

Patel B, Kleeman SO, Neavin D, et al. Shared genetic susceptibility between trigger finger and carpal tunnel syndrome: a genome-wide association study. The Lancet Rheumatology. 2022;4(8):e556-e565. doi:10.1016/S2665-9913(22)00180-1

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New study confirms genetic link between gut health and Alzheimer’s disease https://geneticscienceservices.com/new-study-confirms-genetic-link-between-gut-health-and-alzheimers-disease/ Fri, 05 Aug 2022 07:00:00 +0000 https://geneticscienceservices.com/new-study-confirms-genetic-link-between-gut-health-and-alzheimers-disease/ Christina De Busk August 5, 2022 Study shows relationship between gut health and Alzheimer’s disease and genetic overlap in several other gastrointestinal tract disorders Over time, we continue to learn more about the ability of the gut microbiome to help or hinder our health and well-being. Research has implicated the gut for its role in […]]]>

Study shows relationship between gut health and Alzheimer’s disease and genetic overlap in several other gastrointestinal tract disorders

Over time, we continue to learn more about the ability of the gut microbiome to help or hinder our health and well-being. Research has implicated the gut for its role in conditions such as obesity, type 2 diabetes, fatty liver disease, bowel disease, various forms of cancer, the gut-brain axis and other communications gut-body. What is often still unclear is the exact link between gut health and Alzheimer’s disease or other illnesses.

A new study provides greater clarity in this area, reporting that there is a connection or overlap in the genes of people with gastrointestinal disorders and those with Alzheimer’s disease.

Genetic link between the intestine and Alzheimer’s disease

This study was published in the Communications Biology journal on July 18, 2022, and involved a comprehensive review of over 450,000 samples collected through many different methods (databases, repositories, and major research groups). Because they used such a large sample size, the researchers were able to detect genetic variants associated with the lesser effect.

Through cross-meta-analysis, several loci were identified as existing both in people with Alzheimer’s disease and in people with gastroesophageal reflux disease (GERD) or peptic ulcer disease (PUD). ). Among the loci were PDE4B, BRINP3, ATG16L1, SEMA3F, HLA-DRA, SCARA3, MTSS2, PHB and TOMM40. The results were strengthened by gene-based analyzes and co-localization, the latter being when a locus has genetic factors shared between two or more traits.

This study also noted a genetic overlap in several other disorders of the gastrointestinal tract and Alzheimer’s disease, namely gastritis-duodenitis, irritable bowel syndrome and diverticulosis. No overlap was found between Alzheimer’s disease and inflammatory bowel disease.

While these findings cannot provide a causal pathway, they do provide greater insight into the relationship between the gut and brain health. This is an incredibly complex area of ​​research, in part because the gut microbiome is influenced by so many different factors that can also affect Alzheimer’s disease.

Factors Affecting Gut Health

In addition to genetics, a 2020 review article published in Frontiers in Cellular and Infection Microbiology shares that the gut microbiome is “very sensitive” to external factors such as diet, lack of sleep, exposure to constant noise, and physical inactivity. These are all also risk factors in the development of Alzheimer’s disease.

Because so many factors are at play in each, it can be difficult to identify which may be causes, which may be effects, and which are just coincidences. By learning more about the genetic links that exist, it may become easier to make these determinations as research in this area progresses.

Until we know more, there’s no downside to taking steps to improve gut health. And there are several ways to achieve this goal.

How to improve the intestine

One strategy is to eat a diet high in flavonoids. Research has shown that flavonoids help prevent inflammation in the gastrointestinal tract, both directly and indirectly. These bioactive ingredients can be found in fruits and vegetables, as well as nuts, legumes, and tea.

Another way to improve gut health is to take prebiotics, probiotics, and polyphenols. Studies report that these three functional food components help modulate gut health, which also benefits overall well-being:

  • Prebiotics are generally high in fiber and promote the growth of healthy gut bacteria.
  • Probiotics are live cultures that help boost or improve the “good” bacteria in the gut.
  • Polyphenols are plant food compounds such as flavonoids and phenolic acid that further promote gut health.

Getting enough sleep is also important for a healthy gut. In an article by Opinions on sleep medicine, authors from the University of Alberta in Edmonton report that sleep fragmentation and short sleep duration can negatively impact the composition of gut bacteria. The same goes for persistent jet lag, eating a diet that contributes to obesity, and other factors that can disrupt the circadian rhythm.

Interestingly, this research also suggests that taking probiotics can help improve sleep quality. Thus, making changes to improve gut health in one way may provide benefits in others, such as the relationship between gut health and Alzheimer’s disease – and may provide benefits to patients who support a healthy gut microbiome. healthier and overall health.

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Study finds genetic link to effects of psychedelic drugs https://geneticscienceservices.com/study-finds-genetic-link-to-effects-of-psychedelic-drugs/ Thu, 04 Aug 2022 10:19:01 +0000 https://geneticscienceservices.com/study-finds-genetic-link-to-effects-of-psychedelic-drugs/ According to a recently published study by researchers at the University of North Carolina, common genetic variations in a particular serotonin receptor may be responsible for the varying effects of psychedelic drugs on different individuals. The study, which comes at a time of reinvigorated research into the potential therapeutic benefits of psychedelic drugs, could shed […]]]>

According to a recently published study by researchers at the University of North Carolina, common genetic variations in a particular serotonin receptor may be responsible for the varying effects of psychedelic drugs on different individuals. The study, which comes at a time of reinvigorated research into the potential therapeutic benefits of psychedelic drugs, could shed light on why the substances appear to have dramatically positive effects for some patients with serious mental health conditions while others find little therapeutic value in drugs. .

Bryan Roth, MD, PhD, led a team of researchers from the University of North Carolina (UNC) to carry out the study. The goal of the research was to explore how variations in this serotonin receptor alter the activity of four psychedelic therapies. Laboratory cell research has shown that seven variants uniquely and differentially impact the receptor response to four psychedelic drugs: psilocin, LSD, 5-methoxy-N,N-dimethyltryptamine (5-MeO-DMT ) and mescaline. Researchers believe that in vitro research could be useful in determining appropriate mental health therapies for patients.

“Based on our study, we expect patients with different genetic variations to respond differently to psychedelic-assisted treatments,” said Roth, who directs the National Institutes of Health’s Psychotropic Drug Testing Program. “We believe physicians should consider a patient’s serotonin receptor genetics to identify which psychedelic compound is likely to be the most effective treatment in future clinical trials.”

Psychedelics and mental health

Research published in 2020 in the journal JAMA Psychiatry found that psilocybin-assisted psychotherapy was a quick and effective treatment for a group of 24 participants with major depressive disorder. A separate study published in 2016 determined that psilocybin treatment resulted in a substantial and long-lasting decrease in depression and anxiety in patients with life-threatening cancer. And last year, researchers determined that psychedelic users had less stress during lockdowns put in place to control the COVID-19 pandemic.

Previous research has also determined that psychedelic drugs stimulate serotonin receptors in the brain. The 5-hydroxytryptamine receptor, also known as 5-HT2A, is responsible for mediating a person’s reaction to psychedelic drugs. However, there are several naturally occurring random genetic variations that can affect the function and structure of the 5-HT2A receptor. Much of the research on the effect of psychedelics on mental health is inspired by the drugs’ effect on serotonin receptors, which bind the neurotransmitter serotonin and other similar molecules to help regulate mood. , emotions and appetite.

Although very promising, psychedelic drugs do not seem to be effective as a treatment for everyone. Dustin Hines, PhD, an assistant professor of neuroscience in the department of psychology at the University of Nevada, Las Vegas, who was not involved in the UNC study, said the research could shed light on why the Psychedelic therapies work well for some patients while others find little therapeutic benefit from medication.

Genetic variation in this receptor has been shown to influence patient response to other medications,” Hines told Healthline. “While psychedelic therapies can provide rapid and long-lasting therapeutic benefits for multiple mental health conditions, there is a proportion of patients who are unresponsive.”

Hines also noted that differences in mental health conditions from person to person could also contribute to how patients respond to psychedelic and more traditional treatments.

“Some people with depression may have a genetic predisposition that increases their likelihood of experiencing depression in their lifetime,” Hines said. “Other people with depression may have more situational or environmental contributions.”

The UNC researchers noted that the study could help provide information for clinicians considering psychedelics as a treatment for their patients and called for further investigation.

“That’s another piece of the puzzle that we need to be aware of when deciding whether to prescribe a treatment with such a dramatic effect outside of the therapeutic effect,” Roth said. “Further research will help us continue to find the best ways to help individual patients.”

The results of the study were published last week in the journal ACS Chemical Neuroscience.

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New evidence confirms genetic link between gut health and Alzheimer’s disease https://geneticscienceservices.com/new-evidence-confirms-genetic-link-between-gut-health-and-alzheimers-disease/ Mon, 01 Aug 2022 07:00:00 +0000 https://geneticscienceservices.com/new-evidence-confirms-genetic-link-between-gut-health-and-alzheimers-disease/ Key points to remember People with certain gastrointestinal disorders may be at higher risk of developing Alzheimer’s disease, as new data points to a genetic link between the two. The findings also link abnormal cholesterol levels to Alzheimer’s disease and gut disorders. These new findings could lead to earlier detection and new interventions, such as […]]]>

Key points to remember

  • People with certain gastrointestinal disorders may be at higher risk of developing Alzheimer’s disease, as new data points to a genetic link between the two.
  • The findings also link abnormal cholesterol levels to Alzheimer’s disease and gut disorders.
  • These new findings could lead to earlier detection and new interventions, such as the use of cholesterol-lowering statins to treat the conditions.

For the first time, researchers have confirmed the link between gastrointestinal disorders and the risk of developing Alzheimer’s disease.

Disorders of the gastrointestinal tract, which can range from diverticulitis and irritable bowel syndrome to hemorrhoids, can cause uncomfortable digestive upset and, in some cases, extreme abdominal pain.

According to new data from Australia’s Edith Cowan University, there is a distinct genetic overlap between Alzheimer’s disease and certain gastrointestinal diseases, including:

Interestingly, the same overlap was not seen in people with inflammatory bowel disease.

To determine the link, the researchers assessed the genetic information of 400,000 people who had previously participated in cohort studies.

“Since intestinal disorders were involved [in this study]it makes sense to expect that better gut health could help reduce the risk of Alzheimer’s disease,” study author Emmanuel Adewuyi PhD, a postdoctoral researcher at Edith University, told Verywell. Cowan in Western Australia.

Adewuyi explained that despite the link, there is no evidence of causation. In other words, it’s not safe to assume that a gastrointestinal disorder will cause Alzheimer’s disease, or vice versa.

Additionally, the researchers noted that abnormal cholesterol levels were associated with both Alzheimer’s disease and intestinal disorders. As a result, cholesterol-lowering drugs, including statins, can have a positive influence on people with either condition.

Your diet can help reduce your risk

Dietary practices can have a profound impact on our overall health. And the results of this study underscore the importance of managing hyperlipidemia (a high amount of fat in the blood).

The authors of the article suggest that the diet can be effective in preventing and managing hyperlipidemia without the need to use medications, specifically calling out the Mediterranean diet as a diet that provides benefits for both the disease of Alzheimer’s disease and gastrointestinal disorders, possibly including preventing both from occurring. .

The Mediterranean diet consists of foods like fruits, vegetables, whole grains, beans, seeds, olive oil, and nuts, and with smaller amounts of foods like lean meats, dairy products and eggs. This diet is rich in antioxidants and prebiotic fiber.

What this means for you

Finding ways to support your gut health can help reduce your risk of Alzheimer’s disease.

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Scientists find genetic link between Alzheimer’s disease and gut https://geneticscienceservices.com/scientists-find-genetic-link-between-alzheimers-disease-and-gut/ Thu, 28 Jul 2022 16:20:03 +0000 https://geneticscienceservices.com/scientists-find-genetic-link-between-alzheimers-disease-and-gut/ Share on PinterestScientists have studied the link between Alzheimer’s disease and intestinal disorders. Gerville/Getty Images Studies have suggested that gastrointestinal health and Alzheimer’s disease (AD), the most common form of dementia in the world, can be connected. A recent Australian study has just identified a genetic link between Alzheimer’s disease and several intestinal disorders. Many […]]]>

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Scientists have studied the link between Alzheimer’s disease and intestinal disorders. Gerville/Getty Images
  • Studies have suggested that gastrointestinal health and Alzheimer’s disease (AD), the most common form of dementia in the world, can be connected.
  • A recent Australian study has just identified a genetic link between Alzheimer’s disease and several intestinal disorders.
  • Many genes identified by scientists are involved in lipid metabolism, indicating that statins, which are used to control cholesterol, are a potential treatment for AD and intestinal disorders.
  • The findings could also help doctors diagnose AD earlier, allowing for better symptom control.

Alzheimer’s disease (AD) is the most common form of dementia in older people. According to the World Health Organization, 60-70% cases of dementia can be caused by AD, seventh leading cause of death in the USA.

AD is incurable, but there are treatments that can slow the progression of the disease or ease the symptoms. Medications are most effective if started early, but diagnosis may take time, during which time the disease may progress without treatment.

A recent study has developed an MRI-based machine learning system that can aid in early diagnosis. Now, a discovery by a team in Australia has suggested another possible avenue for earlier diagnosis and treatment of Alzheimer’s disease.

Researchers have discovered genetic links between several gut disorders and Alzheimer’s disease, which, according to lead researcher Dr. Emmanuel Adewuyi, “identifies new targets to study to potentially detect the disease earlier and develop new treatments for both types of conditions”.

The study, conducted by researchers from Edith Cowan University, Perth, Western Australia, is published in Communications Biology.

Hippocrates of Kos (c. 460-377 BC) is famous for saying “All disease begins in the gut”. Increasingly, research suggests that the ancient Greek physician may have been right, at least in the case of several illnesses.

Previous research studies on the gut-brain axis have revealed that the gut microbiome can impact the development of AD. Especially, some studies suggest that gut microbiota bacteria could influence the production of Pro-inflammatory cytokines associated with the pathogenesis of AD.

A review of research studies on this topic have concluded that “the convergence of the inflammatory response of gut origin with aging and poor diet in the elderly contributes to the pathogenesis of AD”.

The researchers in this new study sought to uncover the genetic associations underlying this observed association between the gut and Alzheimer’s disease. They analyzed genetic data from 15 large genome studies, most involving more than 400,000 people, containing information on AD and gut disorders.

They found that certain genes were associated with both Alzheimer’s disease and certain intestinal disorders, such as gastroesophageal reflux disease (GERD), peptic ulcer disease (PUD), gastritis-duodenitis, irritable bowel and diverticulosis.

Although the researchers found significant genetic overlap and a correlation between Alzheimer’s disease and certain gastrointestinal disorders, they found no evidence of a causal association.

The study’s lead author, Professor Simon Laws, director of the Center for Precision Health at Edith Cowan University, says that although the study did not find that gut disorders caused AD or vice versa, the results were extremely valuable:

“These findings provide further evidence supporting the concept of the ‘gut-brain’ axis, a bi-directional link between the cognitive and emotional centers of the brain and the functioning of the gut.”

Their study highlighted the genetic association of Alzheimer’s disease not only with gastrointestinal disorders, but also with the gut microbiome, reinforcing the findings of previous studies.

Commenting On the findings, the American Geriatrics Society said the study not only reveals a genetic link between Alzheimer’s disease and several gut-related disorders, but “the findings add to the evidence that the gut axis -brain may play a role in the development of neurodegenerative disorders.”

The researchers also looked at the biological pathways in which these genes implicated in the two disorders operate and found an overrepresentation of pathways related to lipids and the immune system. Previous research has found a link between disruption of lipid homeostasis and AD.

This finding, which involves lipid-related pathways, including cholesterol metabolism and transport, may suggest an association between abnormal cholesterol, gut disorders, and Alzheimer’s disease, as Dr. Adewuyi explained:

“Although further studies are needed on the mechanisms shared between the conditions, there is evidence that high cholesterol can transfer into the central nervous system, leading to abnormal cholesterol metabolism in the brain.”

‘[E]High cholesterol in the brain has been linked to brain degeneration and consequent cognitive impairment,” he added.

Their findings suggest that drugs to control lipid homeostasis and inflammation may be potential treatments for AD. Thus, the authors suggest that cholesterol-lowering drugs (statins) may prove useful in the treatment of both conditions.

Dr. Mansi Shah, a licensed clinical integrative pharmacist, certified functional medicine practitioner and CEO of the Functional Wellness Network, said the findings could help scientists develop new treatments.

“The study found that the risk of developing AD is increased in people with gastrointestinal disorders and that the two conditions share common genetic risk factors. The results of this study may help improve our understanding of the causes of AD and lead to the development of new treatment strategies,” she said. DTM.

The study says that while the results don’t indicate that Alzheimer’s disease and disorders of the gastrointestinal tract will always coexist, they do point to a possible “shared biology.”

“Thus, early detection of Alzheimer’s disease may benefit from exploration of cognitive impairment in gastrointestinal disorders,” the authors conclude.

Perhaps awareness of this genetic association could lead doctors to evaluate people with gut disorders and cognitive impairment, leading to an earlier diagnosis of Alzheimer’s disease in some.

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