Diseases of the human mitochondrial oxidative phosphorylation system.
Mitochondrial diseases, or diseases of the oxidative phosphorylation system, consist of a group of disorders originated by a deficient synthesis of ATP. This system is composed of proteins codified in the two genetic systems of the cell, the nuclear and the mitochondrial genomes, and, therefore, the mode of inheritance could be either mendelian or maternal. The diseases can also appear sporadically. Due to the central role that mitochondria play in cellular physiology, these diseases are a social and health problem of great importance. They are considered rare diseases; however, together they constitute a large variety of genetic disorders. It is also believed that mitochondria are involved, directly or indirectly, in many other human diseases, mainly in age-related diseases. This review will focus mainly on describing the special characteristics of the mitochondrial genetic system and the diseases caused by mitochondrial DNA mutations. We will also note the difficulties in studying these pathologies, and the possible involvement of the genetic variability of the mitochondrial genome in the development of these diseases.
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet, 177, 50013, Zaragoza, Spain. jmontoya@unizar.es
Julio
J
Montoya
Ester
E
López-Gallardo
María Dolores
MD
Herrero-Martín
Iñigo
I
Martínez-Romero
Aurora
A
Gómez-Durán
David
D
Pacheu
Magdalena
M
Carreras
Carmen
C
Díez-Sánchez
Manuel J
MJ
López-Pérez
Eduardo
E
Ruiz-Pesini
D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000473:pathology*; D020412:Multifactorial Inheritance / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010085:Oxidative Phosphorylation
D004272:DNA, Mitochondrial