Irish research breakthrough on muscular dystrophy

IRISH research could lead to a range of treatments for a muscle-wasting disease affecting dozens of boys in this country alone.

Around one in every 3,500 boys is born with Duchenne muscular dystrophy (DMD), a genetic, muscle-wasting disease that is usually unrecognisable until the age of three or four and can lead to wheelchair confinement by age 12.

It arises from a mutation of the gene for the dystrophin protein found in muscles and currently affects around 80 Irish males.

The research team at National University of Ireland Maynooth has used recently developed technology to identify two significant differences between normal muscle cells and those of DMD sufferers.

One difference was the increased presence in DMD muscles of a type of stress protein, which could be used to develop therapy for the disease.

“There was eight times more of this protein in the DMD muscle, and it acts as a stress response. If this protein could be separated, it could perhaps rescue the muscle,” said Professor Kay Ohlendieck, head of NUI Maynooth’s biology department. Under his supervision, Dr Phil Doran and Geraldine Martin also found that dystrophic muscles were deficient in a calcium-bonding regulator protein, responsible for the nerve impulse that triggers muscle contraction.

The discoveries were made using proteomics technology that allows scientists to create a two-dimensional pattern of the thousands of proteins in a cell, based on the size and electrical charge of each protein.

They found a total of around 30 differences between the proteins in normal muscles and those from DMD patients.

More than 500 families receive information and support services from Muscular Dystrophy Ireland (MDI). The organisation helped fund the research, along with the Health Research Board and Science Foundation Ireland, which provided NUI Maynooth with the 500,000 proteomics equipment.

The project took three years to complete and the significance of the findings was reflected in the research being chosen as the cover story for a recent volume of the prestigious biochemistry journal Proteomics.

The research to develop possible treatments based on the findings would most likely be undertaken on behalf of pharmaceutical companies, based on consultations with the NUI Maynooth team.

The next project for Prof Ohlendieck is to use proteomics technology to examine the hearts and lungs of muscular dystrophy patients, who suffer from cardiac disease and respiratory impairments as well as the more physical symptoms.

NUI Maynooth’s Institute of Immunology has also developed a compound based on a naturally occurring antibiotic in the lungs, which could be used to successfully treat hospital superbugs such as MRSA.