Enzyme replacement helps mice with muscular dystrophy

Defects in a group of enzymes known as glycosyltransferases, particularly one called LARGE, have been implicated in at least six different types of muscular dystrophy. Researchers at the Howard Hughes Medical Institute used gene therapy to increase the levels of LARGE in mice with muscular dystrophy. They found that LARGE promoted normal muscle structure and function in the mice. The researchers then added LARGE in the laboratory to human cells with muscular dystrophy and also found improvement in the muscle cell structure. The results of the study were published in the June 6, 2004, issue of Nature Medicine.