Scientists discover how a gene mutation causes autism

Scientists discover how a gene mutation causes autism

Tough previous research has associated numerous different gene mutations with autism, exactly how these mutations contribute to the development of the condition has been unclear. Now, a new study published in the journal Cell has uncovered the workings behind one autism-related gene mutation.

Researchers have found that mutations in a gene called UBE3A cause it to become hyperactive, leading to abnormal brain development and autism.

Conducted by researchers from the University of North Carolina (UNC) School of Medicine in Chapel Hill, the study reveals how mutations in a gene called UBE3A drive it to become hyperactive, leading to abnormal brain development and .

In individuals with autism, duplication of the 15q chromosome region - referred to as Dup15q syndrome - is one of the most common genetic abnormalities. It was previously believed that too much UBE3A is the cause.

Study leader Mark Zylka, associate professor of cell biology and , and his team explain that in normal brain development, the UBE3A gene can be turned on or off via the attachment of a phosphate molecule, which acts as a regulatory switch.