ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in the TMEM70 gene impair oxidative phosphorylation. Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings. A consanguineous family of Roma (Gipsy) ethnic origin gave birth to 6 childr...

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Bibliographic Details
Main Authors: Anne K. Braczynski, Stefan Vlaho, Klaus Müller, Ilka Wittig, Anna-Eva Blank, Dominique S. Tews, Ulrich Drott, Stephanie Kleinle, Angela Abicht, Rita Horvath, Karl H. Plate, Werner Stenzel, Hans H. Goebel, Andreas Schulze, Patrick N. Harter, Matthias Kieslich, Michel Mittelbronn
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2015/462592

Internet

http://dx.doi.org/10.1155/2015/462592

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