UI study identifies mechanism that causes cardiomyopathy, exacerbates muscular dystrophy

IOWA CITY, Iowa-- Results from a University of Iowa Health Care study may help researchers to better understand and find ways to treat heart problems related to a certain type of muscular dystrophy.

In an article appearing in the Aug. 20 issue of the journal Cell, UI researchers outline, for the first time, a complex domino effect that ultimately leads to a type of heart disease known as cardiomyopathy, which exacerbates limb-girdle muscular dystrophy (LGMD).

"Our results have important implications for scientists developing gene therapy for limb-girdle muscular dystrophy and for neurologists who treat muscular dystrophy patients with cardiomyopathy," said Kevin Campbell, Ph.D., UI professor physiology and biophysics, and neurology, and a Howard Hughes Medical Institute investigator. "Our results suggest that drug therapy directed toward vascular smooth muscle could be effective in preventing and/or stabilizing cardiomyopathy in some cases of muscular dystrophy."

Campbell has focused much of his career on understanding and trying to find ways to treat the various forms of muscular dystrophy, a group of hereditary diseases characterized by progressive muscle weakness and degeneration. LGMD, which affects between one in 20,000 and one in 50,000 individuals, involves initial deterioration of shoulder and pelvic girdle muscles, with relative sparing of other muscle groups. Although various studies of patients with LGMD have shown eventual cardiac involvement, no one had ever established a correlation between the genetic mutation that causes LGMD and cardiomyopathy.

Based on his previous work, Campbell knew that genetic flaws in muscle cell proteins known as sarcoglycans caused LGMD. Sarcoglycans are a substructure of the bigger dystrophin-glycoprotein complex, which researchers believe protects muscle cells from contraction-induced damage.

Using genetically engineered mice, Campbell and his research team showed that those animals lacking a type

Contact: Jennifer Cronin
University of Iowa

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