Asunto(s)
ADN Mitocondrial/genética , Síndrome MELAS/genética , Síndrome MERRF/genética , Fenotipo , Mutación Puntual/genética , Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/etiología , Resultado Fatal , Femenino , Humanos , Síndrome MELAS/complicaciones , Síndrome MERRF/complicaciones , Imagen por Resonancia Magnética , Disinergia Cerebelosa Mioclónica/complicaciones , Disinergia Cerebelosa Mioclónica/patología , Adulto JovenRESUMEN
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.