Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation

0385211 - FGÚ 2013 RIV NL eng J - Journal Article
Karbanová-Havlíčková, Vendula - Vrbacká-Čížková, Alena - Hejzlarová, Kateřina - Nůsková, Hana - Stránecký, V. - Potocká, Andrea - Kmoch, S. - Houštěk, Josef
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1817, č. 7 (2012), s. 1037-1043. ISSN 0005-2728. E-ISSN 1879-2650
R&D Projects: GA MZd(CZ) NS9759; GA ČR(CZ) GAP303/11/0970; GA ČR(CZ) GD303/03/H065; GA MŠMT(CZ) 1M0520
Grant - others:Univerzita Karlova(CZ) 370411
Institutional research plan: CEZ:AV0Z50110509
Keywords : ATP synthase * TMEM70 * disease * gene expression profiling * oxidative phosphorylation * mitochondrial biogenesis
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 4.624, year: 2012

Mutations in TMEM70 gene represent the most frequent cause of isolated deficiency of mitochondrial ATP synthase resulting in a severe neonatal encephalo-cardiomyopathy. Quantitative analysis of respiratory chain complexes and intramitochondrial proteases was performed in the patient cells with 317-2A>G homozygous mutation in TMEM70 gene. SDS- and BN-PAGE Western blot analysis revealed a significant 82–89% decrease of ATP synthase and 50–162% increase of respiratory chain complex IV and 22–53% increase of complex III, whereas the content of Lon protease, paraplegin and prohibitins 1 and 2 was not significantly changed. Whole genome expression profiling revealed posttranscriptional origin of the observed adaptive changes in mitochondrial respiratory chain
Permanent Link: http://hdl.handle.net/11104/0214544