Gene study investigates rare form of autism

Recent research has shed new light on a particular 

gene mutation linked to a rare form of autism.

A new study looks at the genetic mechanism behind a rare form of autism.

A new study is helping scientists better understand the link between the mutation of a gene called MEF2C and a rare form of autism called MEF2C haploinsufficiency syndrome.

The study, which appears in the journal Biological Psychiatry, is the result of a collaboration between the Medical University of South Carolina (MUSC) in Charleston and the Greenwood Genetic Center, also in South Carolina.

What is MEF2C?

In general, people have a pair of MEF2C genes. However, for people with MEF2C haploinsufficiency syndrome, only one of them functions properly. The other is not powerful enough to mediate brain development as it should normally.

According to an article in the journal Neurogenetics, MEF2C haploinsufficiency syndrome is “associated with intellectual disability, autistic features, epilepsy, and abnormal movements.”

Although scientists know that a deficiency in the MEF2C genes is responsible for MEF2C haploinsufficiency syndrome, they do not yet know exactly how the genes regulate brain development.

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