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Autism Genes Activated During Fetal Brain Development

by Shirley Johanna on  February 19, 2015 at 4:40 PM Genetics & Stem Cells News   - G J E 4
Autism genes are activated during fetal brain development, revealed a new research. 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.
 Autism Genes Activated During Fetal Brain Development
Autism Genes Activated During Fetal Brain Development
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Lead researcher Lilia Iakoucheva, PhD said that the surprising thing they immediately observed while studying a set of well-known autism mutations called copy number variants or CNVs, was that different CNVs seemed to be turned on in different developmental period.

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Specifically, the scientists noted that one CNV located in a region of the genome known as 16p11.2, contained genes active during the late mid-fetal period. Ultimately, they identified a network of genes that showed a similar pattern of activation including KCTD13 within 16p11.2 and CUL3, a gene from a different chromosome that is also mutated in children with autism.

Iakoucheva said that they realized that the proteins encoded by the genes, form a complex that regulates the levels of a third protein, RhoA. Rho proteins play critical roles in neuronal migration and brain morphogenesis at early stages of brain development.

Interestingly, the RhoA pathway has recently been implicated in a rare form of autism called Timothy syndrome, which is caused by the mutation in a completely different gene.

Iakoucheva and colleagues are planning to test RhoA pathway inhibitors using a stem cell model of autism.

The research is published in Neuron.

Source: ANI
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