Study confirms genetic link in cerebral palsy

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image: Professor Emeritus Alastair MacLennan with Cerebral Palsy Group Research Ambassador Mathew Reinersten, Adelaide.
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Credit: University of Adelaide

An international research team including the University of Adelaide has found further evidence that rare genetic mutations can cause cerebral palsy, findings that could lead to earlier diagnosis and new treatments for this devastating movement disorder.

In the study published in the journal Genetics of nature the researchers used gene sequencing to examine DNA from 250 families with cerebral palsy, and compared it to a control group of nearly 1,800 unaffected families. They then demonstrated the impact that rare genetic mutations can have on movement control using a fruit fly model.

The results have important clinical implications. They will provide answers to parents, as well as health care and family planning advice, such as counseling when there is a risk of recurrence – often estimated at around 1%, but up to 10% taking into account the risks. genetic.

Research co-author Professor Emeritus Alastair MacLennan, AO, University of Adelaide, says the new study confirms the pioneering work of the Australian Cerebral Palsy Collaborative Research Group based at the Research Institute Robinson of the University of Adelaide.

“Cerebral palsy is a non-progressive developmental movement disorder impacting motor function, which affects approximately one in 700 births in Australia and a similar number worldwide.

Symptoms range from mild to severe and can include intellectual disability, ”said Professor Emeritus MacLennan.

“Historically, cerebral palsy was largely thought to be the result of perinatal asphyxia – a decrease in oxygen in the baby’s brain at birth, but this was only found in 8-10% of cases. .

“By ruling out other known causes, including premature births and birth trauma, this leaves a large number of cases – up to 40% in some studies – of unknown origin.”

Researchers at the University of Adelaide have argued for many years that cerebral palsy is often caused by rare genetic variations (or mutations) that disrupt a child’s control of movement and posture.

“Where previous studies have indicated underlying genetic causes of cerebral palsy, this study is the largest to date and includes extensive statistical modeling and new controls to overcome the limitations of previous research,” said the professor emeritus MacLennan.

Co-author Professor Jozef Gecz, chairman of the Channel 7 Children’s Research Foundation for the Prevention of Childhood Disability and Head of Neurogenetics at the University of Adelaide, states that as a conservative estimate, 14% of the cerebral palsy families in the study had excess damage genetic mutations and inherited recessive genetic variations.

“Genes don’t like to change; as soon as a gene is altered in any way, you disrupt its programming and it can no longer perform perfectly what it is designed to do, ”said Professor Gecz, who is Australia’s Scientist of the Year. Southern. 2019.

“Our American collaborators may have disrupted the same genes in fruit flies as those found in humans, and in three out of four cases, this severely impaired the movement of fruit fly larvae or adults or both.

“Genetic mutations were mostly new, spontaneous variants occurring in the parents’ sperm or egg, which are not otherwise affected.”

In some cases, the identification of specific genetic variations in study individuals has led to new recommendations for the management of patient health, including treatments that would not have been initiated otherwise.

“Just 30 years ago, we were very limited in cerebral palsy treatments, and the outlook for anyone diagnosed was bleak,” said Prof Gecz.

“As we recognize the role of genetics in cerebral palsy, we are opening the door to new treatments, earlier diagnosis and intervention, which could dramatically improve quality of life. ”

Other benefits of the study include a potential reduction in litigation and evidence for further research to identify other damaging genetic variants in human DNA.

“The more we understand the role of genetics in the development of cerebral palsy, the closer we come to learning how to prevent it,” said Prof Gecz.

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Researchers from four countries co-authored the study. Author institutions also include in the United States: Yale University School of Medicine, Rockefeller University, Phoenix Children’s Hospital, and University of Arizona College of Medicine; and in China, the Zhengzhou Children’s Hospital and the Shanghai Family Planning Research Institute.

The Australian Collaborative Cerebral Palsy Research Group at the Robinson Research Institute at the University of Adelaide studies the causes of cerebral palsy, with particular emphasis on genetic pathways. The group has been a leader in its field for over 20 years.

Media contacts:

Professor Jozef Gecz, Head of Neurogenetics, Adelaide Medical School and Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability, The University of Adelaide, Phone: +61 (0) 429 170 699, Email: [email protected] edu .au

Professor Emeritus Alastair MacLennan, Head of the Australian Cerebral Palsy Collaborative Research Group, Robinson Research Institute, University of Adelaide, phone: +61 (0) 400 383 144, e-mail: [email protected] to

Robyn Mills, Media Officer. University of Adelaide. Telephone: +61 (0) 8 8313 6341, Mobile: +61 (0) 410 689 084, [email protected]


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