Harmful De Novo Gene Mutations linked to More-Severe Autism

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Harmful De Novo Gene Mutations linked to More-Severe Autism

Postby BTDT » Tue Nov 04, 2014 7:03 pm

Study Links Harmful De Novo Gene Mutations to More-Severe Autism
By contrast, milder forms of autism are more strongly associated with family history of psychiatric issues
November 04, 2014

A new study explores the idea that autism associated with spontaneous, or de novo, gene mutations tends to involve far more-disabling symptoms and lower IQ than does autism that results from an inherited predisposition to the disorder.

The findings, by researchers with Harvard Medical School and MassGeneral Hospital, provide further evidence that genetics can advance understanding of autism subtypes and shed light on the different needs of those on the autism spectrum.

De novo gene mutations arise spontaneously in the affected individual. They're not found in either parent. They can occur early in prenatal development, and they continue to accumulate in aging cells – including a woman’s eggs and the cells that produce a man’s sperm. As a result, children born to older parents (i.e. from an older egg and/or sperm) tend to have more de novo mutations. Earlier studies have suggested that this explains, at least in part, why autism rates are higher among the children of older parents.

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