[Diseases of mitochondrial DNA].
BACKGROUND
Human diseases caused by disorders of the mitochondrial metabolism have been described more than 30 years ago. Some of these are associated to defects in the oxidative phosphorylation system (OXPHOS system), the final pathway of the mitochondrial energetic metabolism, that leads to the synthesis of ATP.


METHODS
Part of the polypeptide subunits involved in the OXPHOS system are codified by the mitochondrial DNA (mtDNA). In the last 12 years, mutations (point mutations or deletions) in the mtDNA have been described and associated to well defined clinical syndromes caused by defects in the OXPHOS system. The clinical features of these diseases are very heterogeneous affecting in most cases to a great variety of organs and tissues.


CONCLUSIONS
The correct diagnosis of these mitochondrial disorders require precise clinical, morphological, biochemical, and genetic data. The rapid advances in genetic analysis allow the rapid detection of mutations, even before the obtention of other type of analysis.
Montoya
J
J
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, España. jmontoya@posta.unizar.es
Playán
A
A
Solano
A
A
Alcaine
M J
MJ
López-Pérez
M J
MJ
Pérez-Martos
A
A
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism*; D010085:Oxidative Phosphorylation; D017354:Point Mutation / Q000235:genetics
D004272:DNA, Mitochondrial