High-risk genes associated with schizophrenia and autism could be offset by early intervention


A new article in Nature discusses the high-risk genetic variants known to be associated with schizophrenia and autism.

The link between these mental disorders and dyslexia gives hope for a new early intervention strategy that could even lead to prevention.

Testing for genetic variants

The article outlines the rare genetic alterations called copy number variants (CNV) and how important they are to genetically-based psychiatric disorders. This new study doesn't look at diagnosed patients, however, but instead at those who have the variants and no diagnosis.

The researchers found that the CNVs that have not lead to schizophrenia or autism often lead to subtle brain changes and impairments such as dyslexia.

The team focused on a genealogical database of Icelanders, focusing on 26 genetic variants known to increase the risk of schizophrenia or autism. About 1.16 percent of the sample carried one or more of the CNVs. Using this list, they recruited subjects for neuropsychiatric and cognitive testing as well as MRI scans.

A link to dyslexia

Those with the variants consistently performed worse than controls (those with no variations, no diagnoses) on cognitive tests and day-to-day functioning. One CNV specifically was linked to dyslexia, another with number difficulties, etc. Brain structure alterations were also seen in those with some CNVs similar to those found in individuals in early stages of psychosis.

"Now we want to see whether we can find mutations in the genome that affect how people perform on exams in school, how people advance through the educational system, and how they do socio-economically," says Kári Stefánsson, a co-author of the study and chief executive and co-founder of deCODE Genetics, a biotechnology company based in Reykjavik. "We are going to take this out of the realm of artificial tests into the real world."


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