These results from researchers at the University of California, San Diego (UCSD) School of Medicine are published in the April 16, 2002 issue of the journal Proceedings of the National Academy of Sciences.
Muscle wasting associated with DMD was inhibited after the UCSD team added an enzyme called CT GalNAc transferase to skeletal muscles in mice bred to develop DMD. Normally, CT GalNAc transferase is expressed in another area of the muscle, the neuromuscular junction, where nerves send impulses to muscle fiber. The UCSD team was able to re-position the enzyme so that it was available in the DMD-vulnerable skeletal muscle, which is the structural tissue that supports body movement.
We hope this enzyme can eventually be used as a therapy for Duchenne muscular dystrophy, said Paul Martin, Ph.D., UCSD assistant professor of neurosciences, a member of the UCSD Glycobiology Training and Research Center, and the studys senior author. It has the potential for managing the disease, much like we manage diabetes with insulin medication or injections.
The disease strikes one in 5,000 children, almost exclusively boys, before they reach the age of 6. DMD frequently leaves its victims wheelchair-bound by age 12 and most DMD children die in their early 20s. The disease is caused by a mutation in a protein called dystrophin, which helps anchor muscle fibers to the connective tissue surrounding them.
Losing dystrophin is like losing the foundation of your house, Martin said. Without that foundation, the house falls apart. Without dystrophin, muscles affected by DMD become damaged and break.
Martin discovered the enzyme as he looked for other proteins that might compensate for the disabled dystr
Contact: Sue Pondrom
University of California - San Diego