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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 children of which 4 were affected presenting with dysmorphic features, failure to thrive, cardiomyopathy, metabolic crises, and 3-methylglutaconic aciduria as clinical symptoms. Genetic testing revealed a homozygous mutation (c.317-2A>G) in the TMEM70 gene. While light microscopy was unremarkable, ultrastructural investigation of muscle tissue revealed accumulation of swollen degenerated mitochondria with lipid crystalloid inclusions, cristae aggregation, and exocytosis of mitochondrial material. Biochemical analysis of mitochondrial complexes showed an almost complete ATP synthase deficiency. Despite harbouring the same mutation, the clinical outcome in the four siblings was different. Two children died within 60 h after birth; the other two had recurrent life-threatening metabolic crises but were successfully managed with supplementation of anaplerotic amino acids, lipids, and symptomatic treatment during metabolic crisis. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.

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Author:Anne Kristin Braczynski, Stefan Vlaho, Klaus Müller, Ilka WittigORCiD, Anna-Eva Blank, Dominique Suzanne Tews, Ulrich Drott, Stephanie Kleinle, Angela Abicht, Rita Horvath, Karl PlateGND, Werner Stenzel, Hans Hilmar Goebel, Andreas Schulze-BonhageORCiDGND, Patrick Nikolaus HarterORCiDGND, Matthias Kieslich, Michel Guy André MittelbronnORCiDGND
URN:urn:nbn:de:hebis:30:3-506593
DOI:https://doi.org/10.1155/2015/462592
ISSN:2314-6141
ISSN:2314-6133
Pubmed Id:https://pubmed.ncbi.nlm.nih.gov/26550569
Parent Title (English):BioMed research international
Publisher:Hindawi
Place of publication:New York [u. a.]
Contributor(s):Michelangelo Mancuso
Document Type:Article
Language:English
Year of Completion:2015
Year of first Publication:2015
Publishing Institution:Universitätsbibliothek Johann Christian Senckenberg
Release Date:2019/08/12
Volume:2015
Issue:Art. 462592
Page Number:11
First Page:1
Last Page:10
Note:
Copyright © 2015 Anne K. Braczynski et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
HeBIS-PPN:453725848
Institutes:Medizin / Medizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Sammlungen:Universitätspublikationen
Licence (German):License LogoCreative Commons - Namensnennung 3.0