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When contractile proteins go bad: the sarcomere and skeletal muscle disease
Author(s) -
Laing Nigel G.,
Nowak Kristen J.
Publication year - 2005
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.20269
Subject(s) - sarcomere , skeletal muscle , disease , biology , muscle disease , gene , actin , bioinformatics , phenotype , pathogenesis , medicine , genetics , myocyte , microbiology and biotechnology , pathology , anatomy , immunology
The sarcomere is the functional unit of striated muscle contraction. Mutations in sarcomeric proteins are now known to cause around 20 different skeletal muscle diseases. The diseases vary in severity from paralysis at birth, to mild conditions compatible with normal life span. The identification of the disease genes allows more accurate diagnosis, including prenatal diagnosis. Although many disease genes have been identified, the pathophysiology of the gene defects remains remarkably obscure, considering that many of the proteins have been researched for decades. The short‐term goals are to determine the remaining disease genes and to decipher pathogenesis. The long‐term goal is to develop effective therapies—a daunting task when humans are up to 40% muscle and the mutated proteins are fundamental to muscle contraction. The affected patients and families hope for help sooner rather than later. The onus is on all scientists researching sarcomeric proteins to help develop treatments. BioEssays 27:809–822, 2005. © 2005 Wiley Periodicals, Inc.