Researchers identify rare shared genetic mutation for disease in Inuit

A simple genetic test promies to be less invasive than current tests, and can be conducted well before symptoms appear.

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal). The paper identifies a mutation in the gene encoding the glycogen debranching enzyme (AGL), which had previously been undetected in a decade of investigation by the same authors.