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.
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.
Autism
Autism is a neurodevelopmental disorder typically characterized by impaired social and communication skills combined with repetitive movements.
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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.
![Non-Syndromic Autism: New Genetic Links Revealed Using Multiple Models]( "Non-Syndromic Autism: New Genetic Links Revealed Using Multiple Models")
Autism is a pervasive developmental disorder. In medical terms, it is called as a neurodevelopmental disorder that causes harm to social interaction.
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
Non-Syndromic Autism: New Genetic Links Revealed Using Multiple Models
Autism is a pervasive developmental disorder. In medical terms, it is called as a neurodevelopmental disorder that causes harm to social interaction.
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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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A study recently researched the economic impact of autism spectrum disorders.
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 In Children With Autism, Early Brain Responses to Words Predict Developmental OutcomesAccording to a new study, the pattern of brain responses to words in 2-year-old children with autism spectrum disorder predicted the youngsters' linguistic, cognitive and adaptive skills at ages 4 and 6. | Advertisement
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