Revisión

Diseases of the mitochondrial DNA

J. Montoya, A. Playán, A. Solano, M.J. Alcaine-Villarroya, M.J. López-Pérez, A. Pérez-Martos [REV NEUROL 2000;31:324-333] PMID: 12497426 DOI: https://doi.org/10.33588/rn.3104.2000236

OPEN ACCESS

Volumen 31 | Number 04 | Nº of views of the article 11.222 | Nº of PDF downloads 621 | Article publication date 16/08/2000

Download PDF Castellano Citation Search in PubMed

Share in:

Go to another issue

ABSTRACT

INTRODUCTION 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. DEVELOPMENT. 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. KeywordsMitochondrial diseases Mitochondrial DNA CategoriesPatología vascular

FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)

Acceso directo al último número

Último Podcast

Revisión

Diseases of the mitochondrial DNA