Health news

Findings may help scientists find a cure for muscular dystrophy

20^th 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.

The research can be useful for scientists trying to develop new drugs to treat or cure this progressive, muscle-wasting form of muscular dystrophy (MD).

Long journey

In 1992 a team of researchers identified that a genetic defect was the cause of FSHD, but it has taken almost 20 years to find the specific flaw. This flaw, or mutation, is associated with most cases of FSHD and affects about 300,000 people worldwide. The incidence of FSHD in the UK is about one in 20,000 people, or about 3,000 cases.

The researchers explain that in most genetic diseases, they can know the cause just by knowing the mutation exists. However, this wasn’t the case for FSHD. Dr Rabi Tawil, co-author and neurologist at the University of Rochester in New York says, "In most patients with FSHD, a piece of DNA is missing. For a long time it was thought that this was simply junk DNA that was missing.” It wasn’t until this finding that scientists found the gene was crucial to proper functioning.

Dr Marita Pohlschmidt, director of research at the Muscular Dystrophy Campaign says, “The results published by the group of Silvère van der Maarel, Netherlands, represent a huge step in shedding light on the complicated genetics that cause FSHD. Until now the scientific community was not unified on the underlying mechanism and this was a great obstacle for the development of treatment strategies.”

For over 50 years the Muscular Dystrophy Campaign has funded research into finding treatments and cures for more than 60 different muscle conditions. When asked about the Campaign’s own research into MD, Pohlschmidt says, “With regards to FSHD, we currently support two projects aimed at understanding the function of the gene that the Dutch scientists have shown can cause FSHD when it becomes too active. The results published in this paper confirm the theory pursued by our scientists for more than 15 years that provided the knowledge on which this study is based.”