Research — 03 May 2012

Scientists have labeled 33 genes as being associated with autism and other related disorders and also found several of these genes to be altered in people with schizophrenia, according to a study published in the journal Cell.

Of the 33 genes, 22 were linked to autism for the first time.

“By sequencing the genomes of a group of children with neurodevelopmental abnormalities, including autism, who were also known to have abnormal chromosomes, we identified the precise points where the DNA strands are disrupted and segments exchanged within or between chromosomes,” said senior study author James Gusella, director of the Massachusetts General Hospital Center for Human Genetic Research.

“As a result, we were able to discover a series of genes that have a strong individual impact on these disorders.”

“We also found that many of these genes play a role in diverse clinical situations — from severe intellectual disability to adult-onset schizophrenia — leading to the conclusion that these genes are very sensitive to even subtle perturbations,” Gusella added.

The researchers analyzed the genomes of 38 people with autism or other neurodevelopmental disorders and found that a significant number of the genes linked to autism also seem to be associated with schizophrenia and other psychiatric disorders.

“The theory that schizophrenia is a neurodevelopmental disorder has long been hypothesized, but we are just now beginning to uncover specific portions of the genetic underpinnings that may support that theory,” said study author Michael Talkowski of Massachusetts General Hospital.

“We also found that different gene variations—deletion, duplication or inactivation –can result in very similar effects, while two similar changes at the same site might have very different neurodevelopmental manifestations,” Talkowski said.

“We suspected that the genetic causes of autism and other neurodevelopmental abnormalities are complex and likely to involve many genes, and our data support this.”

As first seen in PsychCentral.


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