Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain
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چکیده
منابع مشابه
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
To gain insight into the function of type VI collagen, the col6a1 gene was inactivated by targeted gene disruption in the mouse. The homozygous mutants lacked collagen VI in the tissues and showed histological features of myopathy such as fiber necrosis and phagocytosis and a pronounced variation in the fiber diameter. Muscles also showed signs of stimulated regeneration of fibers. Necrotic fib...
متن کاملA Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.
A single G1679E mutation in the amino-terminal globular domain N2 of the alpha3 chain of type VI collagen was found in a large family affected with Bethlem myopathy. Recombinant production of N2 ( approximately 200 residues) in transfected mammalian cells has now been used to examine the possibility that the mutation interfered with protein folding. The wild-type form and a G1679A mutant were p...
متن کاملCollagen VI-related myopathy
Synonyms Spectrum of phenotypes: Mild: Bethlem myopathy/ benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy First described by Ullrich in 1930 and Bethlem in 1976 respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6...
متن کاملDominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in CO...
متن کاملGastric Strongyloides Stercoralis in a Patient with Inflammatory Myopathy
Strongyloides stercoralis is a free living tropical and semitropical soil nematode which its larva penetrates skin. It can complete its life cycle in human body and causes autoinfection. Most patients have no frank symptoms. But respiratory, gastrointestinal and skin manifestation may occur. We report a 76 year old man admitted to emergency room with muscle weakness, dyspnea, nausea, v...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2015
ISSN: 0021-9258
DOI: 10.1074/jbc.m114.632208