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Gene disruption signals cerebral palsy and autism link

Date:
May 10, 2018
Source:
University of Adelaide
Summary:
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.
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University of Adelaide researchers have uncovered a genetic signal common to both cerebral palsy and autism.

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

The researchers, from the University's Australian 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 Dr Clare van Eyk, Postdoctoral Research Fellow, Adelaide Medical School, University 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 University 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 University's Cerebral Palsy Research Group is led by Emeritus Professor Alastair MacLennan 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.

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Story Source:

Materials provided by University of Adelaide. Note: Content may be edited for style and length.


Journal Reference:

  1. Clare L. van Eyk, Mark A. Corbett, Alison Gardner, Bregje W. van Bon, Jessica L. Broadbent, Kelly Harper, Alastair H. MacLennan, Jozef Gecz. Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Translational Psychiatry, 2018; 8 (1) DOI: 10.1038/s41398-018-0136-4

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University of Adelaide. "Gene disruption signals cerebral palsy and autism link." ScienceDaily. ScienceDaily, 10 May 2018. <www.sciencedaily.com/releases/2018/05/180510101316.htm>.
University of Adelaide. (2018, May 10). Gene disruption signals cerebral palsy and autism link. ScienceDaily. Retrieved September 19, 2021 from www.sciencedaily.com/releases/2018/05/180510101316.htm
University of Adelaide. "Gene disruption signals cerebral palsy and autism link." ScienceDaily. www.sciencedaily.com/releases/2018/05/180510101316.htm (accessed September 19, 2021).

  • RELATED TOPICS
    • Health & Medicine
      • Cerebral Palsy
      • Psychology Research
      • Nervous System
      • Genes
    • Mind & Brain
      • Autism
      • Neuroscience
      • Child Development
      • Language Acquisition
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  • RELATED TERMS
    • Scoliosis
    • Cerebral palsy
    • Biological psychiatry
    • Cerebral contusion
    • Premature birth
    • Autism
    • Thalamus
    • Rett syndrome

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RELATED STORIES

Cerebral Palsy Also Has Genetic Underpinnings
Sep. 30, 2020 — Scientists have identified mutations in single genes that can be responsible for at least some cases of cerebral palsy, according to a new study led by researchers. The study indicates that many of ...
Adults With Cerebral Palsy About Twice as Likely to Develop Non-Communicable Diseases
Aug. 29, 2019 — Adults with cerebral palsy are about twice as likely to develop cardiovascular disease and chronic respiratory disease compared to adults without cerebral palsy, according to a new ...
Could Mutations and Inherited Genes Play a Role in Cerebral Palsy?
Aug. 3, 2017 — Hemiplegic cerebral palsy hampers movement in one side of a person's body. In the first genetic study of its kind to exclusively focus on those with hemiplegic cerebral palsy, a group of researchers ...
Being Overweight in Early Pregnancy Associated With Increased Rate of Cerebral Palsy
Mar. 7, 2017 — Being overweight or obese early in pregnancy was associated with increased rates of cerebral palsy in children, according to a study in Swedish ...
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