Voprosy meditsinskoi khimii (ISSN 0042-8809)

Mitochondrial diseases as a novel branch ofmodern medicine

   


1. Nizhny Novgorod State Medical Academy
Type: Review
PubMed Id: 12506607
Year: 2002 vol: 48  issue:4  pages: 321-336
Abstract: The review highlightscurrent aspects of a large group of disesases the main pathogenetic element of which is aninherited or acquired disturbance of gene expression of nuclear or mitochondrial genomeencoding mitochondrial proteins. The recent data on mutant genetic loci specific to themost wide spread mitochondrial diseases are considered. The steps of pathogenesis, includethe mutations of nuclear or mitochondrial genes, disturbances of mitochondrial proteinsynthesis, dissipation of proton membrane potential, opening of a permeability transitionpore, releasing of procaspases, cytochrome c, and other proapoptotic molecules, finishingby chromatin fragmentation and apoptotic cell death. We discuss the possible reasons ofpolysymptomatic character and different variants of mitochondrial disease manifestationson the basis of the phenomenon of mitochondrial DNA heteroplasmy and metaboliccompensation of the genetic defects. Modern biochemical methods of mitochondrial disease diagnostics:(PCR-amplification, polarographic research of mitochondrial respiration and oxidativephosphorylation, analysis and monitoring of metabolites in biological liquids) arecharacterized. The basic principles and perspectives of the treatment of mitochondrialdiseases, (gene therapy, correction of metabolic disorders, application of antioxidantsand neuropeptides) are described.
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Reference: Zagoskin P.P., Khvatova E.M., Mitochondrial diseases as a novel branch ofmodern medicine, Voprosy meditsinskoi khimii, 2002, vol: 48(4), 321-336.
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