Protein can help diagnose muscular dystrophy

Researchers in Dublin and Bonn have made an important discovery related to muscular dystrophy, a relatively common inherited degenerative disorder.

The finding could make it possible to diagnose the condition much earlier, and may also point a way towards new treatment options.

Muscular dystrophy only affects young males and is the most common inherited neuro-muscular condition here, affecting one in 3,500 boys. Muscle function gradually declines and sufferers have an average life expectancy of just 20 years.

Research led by the University of Maynooth with colleagues from the University of Bonn and Dublin City University decided to carry out a detailed study of what was going on inside the muscle cells of those with the condition, said Prof Kay Ohlendieck, chair of Maynooth's department of biology.

“We looked at 1,000 different proteins, comparing those from a healthy cell with those from a diseased cell, looking for any differences between them,” he said.

The disease interferes with a protein that helps muscle cells to be elastic, which in turn causes a buildup in the cells of a structural protein called collagen. If there is too much collagen the muscle loses its stretchiness and becomes fibrous.

The team found that a particular protein, periostin, was being produced at higher than expected levels in these patients. Periostin is a regulator of collagen. It had been known that collagen was the culprit in driving fibrosis of the muscle tissue but its connection with high levels of periostin is new, he says. Details of the research were published in the journal Proteomics.

The potential link between the two opens up opportunities. “Identifying the correlation between these proteins will have an immediate impact on how early muscular dystrophy is diagnosed because high levels of both proteins can serve as a diagnostic marker.”

New kinds of treatments could also emerge, and it has encouraged the research charity Muscular Dystrophy Ireland to renew funding for the research for another three years. Support also came from the Higher Education Authority and the German Muscular Dystrophy Association.