Linked Life Data

7669057

Source:http://linkedlifedata.com/resource/pubmed/id/7669057

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1995-10-12
pubmed:databankReference
pubmed:abstractText
We found a new point mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with MERRF/MELAS overlap syndrome by screening for heteroplasmy by means of chemical cleavage of mismatch (CCM). Our strategy was based on the previous observations that most pathogenic mtDNA mutations in mitochondrial encephalomyopathies are heteroplasmic, whereas almost all neutral mitochondrial polymorphisms are homoplasmic. CCM followed by nucleotide sequencing of the corresponding region of the mitochondrial genome revealed a heteroplasmic mutation at nt 7512 in the tRNA(Ser(UCN)) gene. The 7512 (T to C) mutation disrupts a highly conserved base pair in the acceptor stem, and this mutation was not found in any of 120 normal controls, or in 43 patients with mitochondrial diseases. The proportion of the mutant mtDNA was 93% in muscle, 76 and 87% in the blood of the patients. A family member without apparent neuromuscular symptoms carried less mutant mtDNA. These findings support the view that this mutation is pathogenic in this family. Detection of heteroplasmy by CCM is an efficient means of screening pathogenic mtDNA point mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
5
pubmed:volume
214
pubmed:geneSymbol
tRNA<up>Ser(UCN)</up>
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
86-93
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
pubmed:affiliation
Department of Neurology, Kyoto University Hospital, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't