Findings may help scientists find a cure for muscular dystrophy
After 20 years, researchers have discovered how a flawed gene can cause this incurable condition
Reviewed by Dr Rob Hicks
20th August – Researchers from Europe and the US have found the specific DNA flaw in genes that causes people to have facioscapulohumeral dystrophy (FSHD). The defective gene produces a protein, called DUX4, that is toxic to muscles. It is this activity that is the key to whether people have FSHD or not.The paper is published in the journal Science and is the result of a close collaboration between researchers from the Netherlands, France, Spain and the US.
"It is amazing to realise that a long and frustrating journey of almost two decades now culminates in the identification of a single small DNA variant that differs between patients and people without the disease. We finally have a target that we can go after," says Dr Silvère van der Maarel, one of the paper’s authors and professor of medical genetics at the University of Leiden in the Netherlands.
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