Article
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
BioMed research international - 1 Jan 2015
Braczynski Anne K, Vlaho Stefan, Müller Klaus, Wittig Ilka, Blank Anna-Eva, Tews Dominique S, Drott Ulrich, Kleinle Stephanie, Abicht Angela, Horvath Rita, Plate Karl H, Stenzel Werner, Goebel Hans H, Schulze Andreas, Harter Patrick N, Kieslich Matthias, Mittelbronn Michel
Abstract excerpt
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 children of which 4 were affected presenting with dysmorphic features, failure to thrive, cardiomyopathy, metabolic...
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