Research connection

July 2010

For Dr Lucy Burns, (MBBS 1993) supporting Monash research into Facioscapulohumeral muscular dystrophy (FSHD) is a cause close to her heart.

The President of the Victoria Branch of the FSHD Global Research Foundation and Monash medicine alumna is living with FSHD - the most common form of adult muscular dystrophy - and as an inherited disorder, there is a 50 per cent chance her children will grow up to develop the disease.

The foundation has donated $160,000 to Professor Christina Mitchell's team to analyse the levels and distribution of novel proteins that regulate muscle mass in human FSHD skeletal muscle samples, and to study muscle wasting in a mouse model of the disease.

“The Mitchell lab’s research is vitally important to me personally, not just because I have this disease, but in case my children have it,” Dr Burns said.

“FSHD doesn’t declare itself until early adolescence and it has a variable impact on each person; some people are mildly affected, some severely.

"This makes decisions about genetic testing very difficult for people that have a family pre-disposition to FSHD.

“The research also enables me to continue my strong association to Monash – I was an intern for Professor Mitchell (PhdMed 1988) following the completion of my medicine degree, and am friends with Colleen D’Arcy, a final-year Monash medical student and one of the key researchers working on the FSHD project.”

FSHD initially causes weakness and wasting in the muscles of the face, shoulder and upper arms. The disorder can also spread to the abdomen, hip and foot muscles, and affected people are often unable to walk. It causes progressive loss of function and devastates the families it affects.

Globally there is little research into FSHD and at present no effective treatments to combat the debilitating loss of skeletal muscle. That’s why the foundation’s Victorian branch is so keen to support local projects.

The significant funding from the FSHD Global Research Foundation is enabling Professor Mitchell’s team to better understand the mechanisms and triggers that cause muscle wasting in FSHD patients and why the muscles aren’t able to regenerate.

“FSHD, although not widely know about, is not actually that rare - it affects about 3000 Australians and their families and yet it doesn’t receive any government funding,” Dr Burns said.

“The amazing thing about Monash University’s research and other research like it is that the findings could have implications not just for FSHD sufferers, but for the general population, as there appears to be a link between FSHD and the muscle wasting that occurs with increasing age.

“We know the elderly population are at high risk of falls and injury and this is largely due to muscle atrophy that occurs with ageing."

The good news is Professor Mitchell’s team has made a significant breakthrough, with positive results on test subjects. They have identified a new protein that can make muscles bigger and stronger.

They are currently testing whether this novel protein can improve muscle mass and prevent muscle damage using both cell-based and mouse models of FSHD.

“The foundation is really excited about the way Monash has embraced FSHD research and the way the current research is progressing. We could soon see the breakthrough we have been hoping for,” Dr Burns said.