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Thick and thin filament gene mutations in striated muscle diseases
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID-id: 0000-0001-8854-5213
2008 (Engelska)Ingår i: International Journal of Molecular Sciences, ISSN 1422-0067, E-ISSN 1422-0067, Vol. 9, nr 7, s. 1259-1275Artikel, forskningsöversikt (Refereegranskat) Published
Abstract [en]

The sarcomere is the fundamental unit of cardiac and skeletal muscle contraction. During the last ten years, there has been growing awareness of the etiology of skeletal and cardiac muscle diseases originating in the sarcomere, an important evolving field. Many sarcomeric diseases affect newborn children, i. e. are congenital myopathies. The discovery and characterization of several myopathies caused by mutations in myosin heavy chain genes, coding for the major component of skeletal muscle thick filaments, has led to the introduction of a new entity in the field of neuromuscular disorders: myosin myopathies. Recently, mutations in genes coding for skeletal muscle thin filaments, associated with various clinical features, have been identified. These mutations evoke distinct structural changes within the sarcomeric thin filament. Current knowledge regarding contractile protein dysfunction as it relates to disease pathogenesis has failed to decipher the mechanistic links between mutations identified in sarcomeric proteins and skeletal myopathies, which will no doubt require an integrated physiological approach. The discovery of additional genes associated with myopathies and the elucidation of the molecular mechanisms of pathogenesis will lead to improved and more accurate diagnosis, including prenatally, and to enhanced potential for prognosis, genetic counseling and developing possible treatments for these diseases. The goal of this review is to present recent progress in the identification of gene mutations from each of the major structural components of the sarcomere, the thick and thin filaments, related to skeletal muscle disease. The genetics and clinical manifestations of these disorders will be discussed.

Ort, förlag, år, upplaga, sidor
MDPI AG , 2008. Vol. 9, nr 7, s. 1259-1275
Nationell ämneskategori
Neurologi
Forskningsämne
Medicin
Identifikatorer
URN: urn:nbn:se:his:diva-11961DOI: 10.3390/ijms9071259ISI: 000257986800010PubMedID: 19325803Scopus ID: 2-s2.0-48649086175OAI: oai:DiVA.org:his-11961DiVA, id: diva2:906956
Tillgänglig från: 2016-02-25 Skapad: 2016-02-25 Senast uppdaterad: 2017-11-30Bibliografiskt granskad

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