Autism Mutations May Affect Fetal Brain Development Pathway

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Researchers have found a link between mutations that cause autism in children and a pathway that regulates fetal brain development, according to a study published in Neuron.

Copy number variants (CNVs) are well-known autism mutations, so the researchers focused their investigation on the location and time of the genes’ expression during brain development.

The researchers noted that different CNVs were activated during different stages of development. They identified a specific CNV located in the 16p11.2 region of the genome that contained genes that were active during the late mid-fetal period. They were then able to locate a network of genes with a similar activation pattern, which included both KCTD13 from the 16p11.2 region and CUL3 from another region. CUL3 is also mutated in children with autism.

The researchers noted that both 16p11.2 CNV and CUL3 encode proteins that regulate the levels of the RhoA protein. RhoA is integral for several processes of early brain development, including neuronal migration and brain morphogenesis.

Further research showed that CUL3 mutations interrupt KCTD13 interaction, which may mean that 16p11.2 CNV and CUL3 use the same RhoA pathway.

The researchers plan to test RhoA pathway inhibitors by using a stem cell model of autism. They hope that their research can eventually lead to targeted treatments for children with autism stemming from these particular gene mutations.

Autism Mutations May Affect Fetal Brain Development Pathway

Scientists at the University of California, San Diego School of Medicine have found that mutations that cause autism in children are connected to a pathway that regulates brain development. The research, led by Lilia Lakoucheva, PhD, assistant professor in the Department of Psychiatry, is published in the journal Neuron.

The researchers studied a set of well-known autism mutations called copy number variants or CNVs. They investigated when and where the genes were expressed during brain development. "One surprising thing that we immediately observed was that different CNVs seemed to be turned on in different developmental periods," said Lakoucheva.

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