Carsten G Bönnemann1, Nigel G Laing. 1. Division of Neurology and Pennsylvania Muscle Institute, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. bonnemann@email.chop.edu
Abstract
PURPOSE OF REVIEW: The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of human muscle disease. An overview of the more precise molecular definitions of these diseases is timely. RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene expression; the theoretical analysis of the increasing number of mutations identified in the skeletal muscle actin gene; the identification of mutations in myosin causing hereditary inclusion body myopathy and hyaline body myopathy and the identification of mutations in myotilin in myofibrillar myopathy. SUMMARY: An increasing spectrum of human muscle diseases is being shown to be caused by mutations in proteins of all the major components of the sarcomere. Molecular analysis is providing a more accurate delineation of these diseases, but for the giant nebulin and titin genes, molecular diagnosis remains difficult. Treatment options for these disorders will only come through a deeper understanding of the sarcomere and of the pathogenesis of its disorders.
PURPOSE OF REVIEW: The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of humanmuscle disease. An overview of the more precise molecular definitions of these diseases is timely. RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene expression; the theoretical analysis of the increasing number of mutations identified in the skeletal muscle actin gene; the identification of mutations in myosin causing hereditary inclusion body myopathy and hyaline body myopathy and the identification of mutations in myotilin in myofibrillar myopathy. SUMMARY: An increasing spectrum of humanmuscle diseases is being shown to be caused by mutations in proteins of all the major components of the sarcomere. Molecular analysis is providing a more accurate delineation of these diseases, but for the giant nebulin and titin genes, molecular diagnosis remains difficult. Treatment options for these disorders will only come through a deeper understanding of the sarcomere and of the pathogenesis of its disorders.
Authors: P J Lamont; B Udd; F L Mastaglia; M de Visser; P Hedera; T Voit; L R Bridges; V Fabian; A Rozemuller; N G Laing Journal: J Neurol Neurosurg Psychiatry Date: 2005-08-15 Impact factor: 10.154
Authors: Anabelle S Cornachione; Felipe S Leite; Junling Wang; Nicolae A Leu; Albert Kalganov; Denys Volgin; Xuemei Han; Tao Xu; Yu-Shu Cheng; John R R Yates; Dilson E Rassier; Anna Kashina Journal: Cell Rep Date: 2014-07-10 Impact factor: 9.423