Mitochondrial abnormalities in the myofibrillar myopathies. (23rd July 2015)

• Record Type: Journal Article
• Authors: Jackson, S.; Schaefer, J.; Meinhardt, M.; Reichmann, H.
• Is Part Of: European journal of neurology. Volume 22:Number 11(2015:Nov.)
• Page Start: 1429
• Page End: 1435
• Publication Date: 2015-07-23
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12814
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12814-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Myofibrillar myopathies are a genetically diverse group of skeletal muscle disorders, with distinctive muscle histopathology. Causative mutations have been identified in the genes <italic>MYOT</italic>, <italic> LDB3</italic>, <italic> DES</italic>, <italic> CRYAB</italic>, <italic> FLNC</italic>, <italic> BAG3</italic>, <italic> DNAJB6</italic>, <italic> FHL1</italic>, <italic> PLEC</italic> and <italic>TTN</italic>, which encode proteins which either reside in the Z‐disc or associate with the Z‐disc. Mitochondrial abnormalities have been described in muscle from patients with a myofibrillar myopathy. We reviewed the literature to determine the extent of mitochondrial dysfunction in each of the myofibrillar myopathy subtypes. Abnormal mitochondrial distribution is a frequent finding in each of the subtypes, but a high frequency of COX‐negative or ragged red fibres, a characteristic finding in some of the conventional mitochondrial myopathies, is a rare finding. Few <italic>in vitro</italic> studies of mitochondrial function have been performed in affected patients.</p> </abstract>