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[Mutations of mitochondrial DNA and their relation to neuromuscular diseases].

Authors
  • Wunderlich, V
Type
Published Article
Journal
Zentralblatt für allgemeine Pathologie u. pathologische Anatomie
Publication Date
Jan 01, 1990
Volume
136
Issue
4
Pages
305–316
Identifiers
PMID: 2205992
Source
Medline
License
Unknown

Abstract

According to present knowledge, mutations of mitochondrial DNA (mtDNA), implicated in the mitochondrial theory of carcinogenesis that had been inaugurated 50 years ago by Graffi, appear to be involved in malignant transformation of cells, although no definite evidence has been provided, as yet. However, as very recently elucidated, a clear-cut association exists between different classes of mutations of mtDNA (among them point mutations, deletions and duplications) and some human mitochondriopathies, particularly neuromuscular diseases. These include Leber's hereditary optic neuropathy, the Kearns-Sayre syndrome and two encephalomyopathies known by the acronyms MERRF and MELAS syndrome. The different alterations of mtDNA, though variable, can be assigned to defined positions on the genetic map of mtDNA. Point mutations of mtDNA seem to occur preferentially in conjunction with maternally inherited disorders. Although the results obtained so far are of interest mainly in terms of cognitive theory they provide new stimuli for the development of molecular diagnosis, genetic counselling and possibly for more effective treatment of the above diseases.

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