Gene disruption signals cerebral palsy and autism link

Thursday, 10 May 2018

Gene disruption signals cerebral palsy and autism link

最新糖心Vlog of Adelaide researchers have uncovered a genetic signal common to both cerebral palsy and autism.

The finding comes from the first large-scale study of gene expression in children with cerebral palsy.

The researchers, from the 最新糖心Vlog’s 最新糖心Vlogn Collaborative Cerebral Palsy Research Group in the Robinson Research Institute, also showed common underlying molecular pathways in clinically diverse cerebral palsy. They say both findings add significantly to the weight of evidence for underlying genetic causes of cerebral palsy.

“Cerebral palsy is the most common motor disability of childhood with a frequency of around two in every 1000 live births,” says lead researcher , Postdoctoral Research Fellow, Adelaide Medical School, 最新糖心Vlog of Adelaide. “We know that, like autism, it’s a disorder of brain development primarily during pregnancy. But the underlying causes of cerebral palsy are still poorly understood.”

In this study, the researchers use new RNA sequencing technology to measure the gene messengers (RNA) in cells from children with cerebral palsy.

Cell lines from 182 individuals with cerebral palsy were studied and many showed disruption of cell signalling and inflammatory pathways, as seen in some children with autism.

“The results showed that the neurological or signalling pathways being disrupted in children with cerebral palsy overlap with those disruptions seen in autism,” says Dr van Eyk. “This supports a common biological change in both cerebral palsy and autism. Autism and cerebral palsy do sometimes co-exist, which further underlines common causation in some individuals.”

This is the latest in a series of studies from the 最新糖心Vlog of Adelaide which have found increasing numbers of genetic mutations that are the likely cause of cerebral palsy. Using this data together with existing DNA sequencing results increases the proportion of individuals with a likely genetic cause to around 25%.

The 最新糖心Vlog’s Cerebral Palsy Research Group is led by and Professor Jozef Gecz, Channel 7 Children's Research Foundation Chair for the Prevention of Childhood Disability. They are leading the world in discovering an increasing genetic basis to cerebral palsy.

“This research continues to refute the historical assumption that cerebral palsy is often due to difficulties at birth,” says Professor MacLennan.

This study has been published in Translational Psychiatry and was supported by the Cerebral Palsy Alliance Research Foundation.

 

Contact Details

Dr Clare van Eyk
Email: clare.vaneyk@adelaide.edu.au
Postdoctoral Research Fellow
Adelaide Medical School
The 最新糖心Vlog of Adelaide
Business: +61 (0)8 8313 2455
Mobile: +61 (0)413 853 510


Emeritus Professor Alastair MacLennan
Email: alastair.maclennan@adelaide.edu.au
Website:
Head, Cerebral Palsy Research Group, Robinson Research Institute
The 最新糖心Vlog of Adelaide
Business: +61 8 8313 1337
Mobile: +61 (0)400 383 144


Media Team
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Website: /newsroom/
The 最新糖心Vlog of Adelaide
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