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Mayr, J.A.* ; Haack, T.B. ; Freisinger, P.* ; Karall, D.* ; Makowski, C.C.* ; Koch, J.* ; Feichtinger, R.G.* ; Zimmermann, F.A.* ; Rolinski, B.* ; Ahting, U.* ; Meitinger, T. ; Prokisch, H. ; Sperl, W.J.K.*

Spectrum of combined respiratory chain defects.

J. Inherit. Metab. Dis. 38, 629-640 (2015)
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Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis. Deficiency of more than one respiratory chain enzyme is a common finding. Combined defects are found in 49 % of the known disease-causing genes of mitochondrial energy metabolism and in 57 % of patients with OXPHOS defects identified in our diagnostic centre. Combined defects of complexes I, III, IV and V are typically due to deficiency of mitochondrial DNA replication, RNA metabolism or translation. Defects in cofactors can result in combined defects of various combinations, and defects of mitochondrial homeostasis can result in a generalised decrease of all OXPHOS enzymes. Noteworthy, identification of combined defects can be complicated by different degrees of severity of each affected enzyme. Furthermore, even defects of single respiratory chain enzymes can result in combined defects due to aberrant formation of respiratory chain supercomplexes. Combined OXPHOS defects have a great variety of clinical manifestations in terms of onset, course severity and tissue involvement. They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome in a subset of disorders.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Mitochondrial Translation Defect; Sideroblastic Anemia-mlasa; Elongation-factor Efts; Complex-i Deficiency; C-oxidase Deficiency; Iron-sulfur Protein; Hypertrophic Cardiomyopathy; Lactic-acidosis; External Ophthalmoplegia; Mammalian Mitochondria
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 0141-8955
e-ISSN 1573-2665
Journal Journal of Inherited Metabolic Disease
Quellenangaben Volume: 38, Issue: 4, Pages: 629-640 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Dordrecht
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1007/s10545-015-9831-y
WOS ID WOS:000357493100003
Scopus ID 84937251595
Scopus ID 84924973374
Erfassungsdatum 2015-03-27
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