NDLI: Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI 2(VI) chain.

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Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI 2(VI) chain.

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Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI 2(VI) chain.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Gomez-ibañez, Asier Zamurs, Laura K. Idoate, Miguel A. Pastor, Pau Lamandé, Shireen R. Hanssen, Eric
Description	Author Affiliation: Zamurs LK ( From the Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville 3052, Australia.); Idoate MA ( Departments of Pathology and.); Hanssen E ( Electron Microscopy Unit, Bio21 Molecular Science and Biotechnology Institute and.); Gomez-Ibañez A ( Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, 31008 Pamplona, Spain.); Pastor P ( Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, 31008 Pamplona, Spain, Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, 31008 Pamplona, Spain, Centro de Investigación Biomédica en Red de Enfermedade); Lamandé SR ( From the Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville 3052, Australia, Department of Paediatrics, University of Melbourne, Parkville 3010, Australia, shireen.lamande@mcri.edu.au.)
Abstract	Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI. Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions. Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited. We studied a patient with Bethlem myopathy. Electron microscopy of his muscle biopsy revealed abnormal mitochondria. We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain. Mutant 2(VI) chains are unable to associate with 1(VI) and 3(VI) and are degraded by the proteasomal pathway. Some collagen VI is assembled, albeit more slowly than normal, and is secreted. These molecules contain the minor 2(VI) C2a splice form that has an alternative C terminus that does include the mutation. Collagen VI tetramers containing the 2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix. We expressed wild-type and mutant 2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell. These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.
ISSN	00219258
e-ISSN	1083351X
Journal	Journal of Biological Chemistry
Issue Number	7
Volume Number	290
Language	English
Publisher	American Society for Biochemistry and Molecular Biology (United States)
Publisher Date	2015-02-13
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Collagen Type VI Chemistry Genetics Contracture Pathology Homozygote Mitochondria Muscular Dystrophies Congenital Mutation Amino Acid Substitution Blotting, Western Cells, Cultured Metabolism Fibroblasts Genotype RNA, Messenger Real-Time Polymerase Chain Reaction Reverse Transcriptase Polymerase Chain Reaction Research Support, Non-U.S. Gov't Biochemistry Molecular Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology

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