Variants in non-coding DNA contribute to inherited Autism risk

Friday, 20 April 2018: In Australia, one in every 150 people have Autism Spectrum Disorder (ASD) with 80 per cent of those being male. Dr Claudio Toma from Neuroscience Research Australia (NeuRA) was part of an international study which has identified a new genetic culprit of Autism Spectrum Disorder. The global collaboration based at the University of California San Diego School of Medicine was led by Professor Jonathan Sebat.

Research in recent years established that de novo mutations, which are mutations appearing during gamete formation in the genes of the patients but are not inherited from parents, contribute to up to 20 per cent of cases of ASD.

This study performed the sequencing of the genome in 2,600 families with autism through advanced technologies to study the inherited genetic variants responsible for autism. The results found that rare genetic alterations affecting the elements that regulate the genes have a substantial role in the genetics of this disorder. These regulatory elements heighten risk and are inherited predominantly from the father.

This new research approach differs from previous studies in two important ways: Firstly, the team explored the role for rare structural variants (changes of long genetic regions in DNA) that disrupt not directly the genes but their neighbouring control elements that turn genes on and off. Second, this study is focused not in variants that occur as new mutations in autistic children but instead are inherited from their parents.

The identification of the genetics underlying autism will contribute to identifying the alterations that occur in the brain in ASD, and the development of future targeted therapies.

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