Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy.

Abstract

Electron microscopy study of muscle biopsies from patients with autosomal-dominant Emery-Dreifuss muscular dystrophy revealed nuclear alterations in about 10% of the preserved muscle fibers. The major findings consisted of peripheral heterochromatin loss or detachment from the nuclear envelope, and of interchromatin texture alterations. These abnormalities are similar to those 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 that an abnormal ultrastructural arrangement of the nuclear periphery is a common feature in the known forms of Emery-Dreifuss muscular dystrophy, and that several proteins of the nuclear scaffold are necessary in muscle cells to maintain the nuclear structural/functional integrity and a normal muscle cell metabolism.

• Authors: P Sabatelli, G Lattanzi, A Ognibene, M Columbaro, C Capanni, L Merlini, N M Maraldi, S Squarzoni
• Journal: Muscle & nerve (Muscle Nerve) Vol. 24 Issue 6 Pg. 826-9 (Jun 2001) ISSN: 0148-639X [Print] United States
• PMID: 11360268 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 John Wiley & Sons, Inc.

Chemical References

• Heterochromatin
• Lamins
• Nuclear Proteins

Topics

• Adult
• Amino Acid Substitution
• Biopsy
• Cell Nucleus (pathology, ultrastructure)
• Child
• Female
• Heterochromatin (pathology, ultrastructure)
• Humans
• Lamins
• Male
• Middle Aged
• Muscle Fibers, Skeletal (pathology, ultrastructure)
• Muscle, Skeletal (pathology, ultrastructure)
• Muscular Dystrophy, Emery-Dreifuss (genetics, pathology)
• Nuclear Proteins (genetics)
• X Chromosome