Gene disruption signals cerebral palsy and autism link
成人大片 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 University鈥檚 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.
鈥淐erebral palsy is the most common motor disability of childhood with a frequency of around two in every 1000 live births,鈥 says lead researcher聽, Postdoctoral Research Fellow, Adelaide Medical School, 成人大片. 鈥淲e know that, like autism, it鈥檚 a disorder of brain development primarily during pregnancy. But the underlying causes of cerebral palsy are still poorly understood.鈥
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.
鈥淭he results showed that the neurological or signalling pathways being disrupted in children with cerebral palsy overlap with those disruptions seen in autism,鈥 says Dr van Eyk. 鈥淭his 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.鈥
This is the latest in a series of studies from the 成人大片 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鈥檚 Cerebral Palsy Research Group is led by聽听补苍诲听Professor Jozef Gecz, Channel 7 Children鈥檚 Research Foundation Chair for the Prevention of Childhood Disability. They are leading the world in discovering an increasing genetic basis to cerebral palsy.
鈥淭his research continues to refute the historical assumption that cerebral palsy is often due to difficulties at birth,鈥 says Professor MacLennan.
This study has been published in聽Translational Psychiatry聽and was supported by the Cerebral Palsy Alliance Research Foundation.