Abstract

PEREZ HIDALGO, María Elena et al. Updating on the Topic of Mitochondrial Diseases. ccm [online]. 2015, vol.19, n.3, pp. 483-496. ISSN 1560-4381.

Mitochondrial diseases are a group of heterogeneous multisystem diseases in which the clinical presentation; genetic, biochemical, and histopathological show mitochondrial dysfunction. The disorders may depend on the proper mitochondrial DNA, nuclear DNA disorders or changes in communication mitochondrial and nuclear genomes. Its diagnosis requires the prior recognition of the clinical presentation and relies primarily on muscle biopsy and molecular studies to look for mutations in mitochondrial DNA. Mitochondrial diseases are a challenge for physicians. Mitochondria have their own DNA and damage this occurs, mitochondrial diseases related to the genesis of Alzheimer's, Parkinson's and diabetes mellitus. An updated knowledge of these diseases allows better diagnosis and management of these patients that is why a literature review of the current status of the topic was performed.

Keywords : mitochondrial diseases; neurodegenerative diseases; mitochondrial DNA.

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