Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

Electron microscopy study of muscle biopsies from patients with autosomal-d ominant Emery-Dreifuss muscular dystrophy revealed nuclear alterations in a bout 10% of the preserved muscle fibers. The major findings consisted of pe ripheral heterochromatin loss or detachment from the nuclear envelope, and of interchromatin texture alterations. These abnormalities are similar to t hose reported in an animal model of the disease and to those found in the X -linked form of Emery-Dreifuss muscular dystrophy. These results suggest th at an abnormal ultrastructural arrangement of the nuclear periphery is a co mmon feature in the known forms of Emery-Dreifuss muscular dystrophy, and t hat several proteins of the nuclear scaffold are necessary in muscle cells to maintain the nuclear structural/ functional integrity and a normal muscl e cell metabolism. (C) 2001 John Wiley & Sons, Inc.