Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-10-23
pubmed:abstractText
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.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0044-4030
pubmed:author
pubmed:issnType
Print
pubmed:volume
136
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-16
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
[Mutations of mitochondrial DNA and their relation to neuromuscular diseases].
pubmed:affiliation
Zentralinstitut für Krebsforschung, Bereich Chemische Kanzerogenese, Akademie der Wissenschaften der DDR, Berlin-Buch.
pubmed:publicationType
Journal Article, English Abstract, Review