Genetics of mitochondrial respiratory chain deficiencies.
Rev Neurol (Paris)
; 170(5): 309-22, 2014 May.
Article
in En
| MEDLINE
| ID: mdl-24798924
ABSTRACT
Oxidative phosphorylation, i.e. ATP synthesis by the oxygen-consuming respiratory chain (RC), supplies most organs and tissues with a readily usable energy source, and is already fully functioning before birth. This means that, in theory, RC deficiency can give rise to any symptom in any organ or tissue at any age and with any mode of inheritance, due to the twofold genetic origin of RC components (nuclear DNA and mitochondrial DNA). It has long been erroneously believed that RC disorders originate from mutations of mtDNA as, for some time, only mutations or deletions of mtDNA could be identified. However, the number of disease-causing mutations in nuclear genes is now steadily growing. These genes not only encode the various subunits of each complex, but also the ancillary proteins involved in the different stages of holoenzyme biogenesis, including transcription, translation, chaperoning, addition of prosthetic groups and assembly of proteins, as well as the various enzymes involved in mtDNA metabolism.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mitochondrial Diseases
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Rev Neurol (Paris)
Year:
2014
Document type:
Article
Country of publication:
FR
/
FRANCE
/
FRANCIA
/
FRANÇA