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Mitochondrial disorders caused by mutations in respiratory chain assembly factors

Diaz, Francisca; Kotarsky, Heike LU ; Fellman, Vineta LU and Moraes, Carlos T. (2011) In Seminars in Fetal & Neonatal Medicine 16(4). p.197-204
Abstract
Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the respiratory complexes, the majority of mutations found to date affect factors that do not form part of the final complexes. These assembly factors or chaperones have multiple functions ranging from cofactor insertion to proper assembly/stability of the complexes. Although significant progress has been made in the last few years in... (More)
Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the respiratory complexes, the majority of mutations found to date affect factors that do not form part of the final complexes. These assembly factors or chaperones have multiple functions ranging from cofactor insertion to proper assembly/stability of the complexes. Although significant progress has been made in the last few years in the discovery of new assembly factors, the function of many remains elusive. Here, we describe assembly factors or chaperones that are required for respiratory chain complex assembly and their clinical relevance. (C) 2011 Elsevier Ltd. All rights reserved. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Chaperones, Mitochondrial diseases, Newborn infant, Oxidative, phosphorylation, Perinatal disorder, Respiratory chain deficiency
in
Seminars in Fetal & Neonatal Medicine
volume
16
issue
4
pages
197 - 204
publisher
Elsevier
external identifiers
  • wos:000293263300005
  • scopus:79959861353
ISSN
1878-0946
DOI
10.1016/j.siny.2011.05.004
language
English
LU publication?
yes
id
51b5cc56-20e7-4d9a-86b4-749de5b16ead (old id 2071705)
date added to LUP
2011-09-02 08:28:31
date last changed
2017-06-18 03:15:55
@article{51b5cc56-20e7-4d9a-86b4-749de5b16ead,
  abstract     = {Mitochondrial diseases involve the dysfunction of the oxidative phosphorylation (OXPHOS) system. This group of diseases presents with heterogeneous clinical symptoms affecting mainly organs with high energy demands. Defects in the multimeric complexes comprising the OXPHOS system have a dual genetic origin, mitochondrial or nuclear DNA. Although many nuclear DNA mutations involve genes coding for subunits of the respiratory complexes, the majority of mutations found to date affect factors that do not form part of the final complexes. These assembly factors or chaperones have multiple functions ranging from cofactor insertion to proper assembly/stability of the complexes. Although significant progress has been made in the last few years in the discovery of new assembly factors, the function of many remains elusive. Here, we describe assembly factors or chaperones that are required for respiratory chain complex assembly and their clinical relevance. (C) 2011 Elsevier Ltd. All rights reserved.},
  author       = {Diaz, Francisca and Kotarsky, Heike and Fellman, Vineta and Moraes, Carlos T.},
  issn         = {1878-0946},
  keyword      = {Chaperones,Mitochondrial diseases,Newborn infant,Oxidative,phosphorylation,Perinatal disorder,Respiratory chain deficiency},
  language     = {eng},
  number       = {4},
  pages        = {197--204},
  publisher    = {Elsevier},
  series       = {Seminars in Fetal & Neonatal Medicine},
  title        = {Mitochondrial disorders caused by mutations in respiratory chain assembly factors},
  url          = {http://dx.doi.org/10.1016/j.siny.2011.05.004},
  volume       = {16},
  year         = {2011},
}