Linked Life Data

12638016

Source:http://linkedlifedata.com/resource/pubmed/id/12638016

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2003-3-14
pubmed:abstractText
We investigated 14 primary mitochondrial DNA (mtDNA) mutations at nucleotide positions (nps) 3460A, 4160C, 5244A, 9101C, 9804A, 10663C, 11778A, 13730A, 14459A, 14482G, 14484C, 14495G, 14498T, and 14568T, and one common secondary mutation at np 15257A, in 82 Korean patients with suspected Leber's hereditary optic neuropathy (LHON). Only three kinds of LHON mutations were identified in 60 (73 %) of the 82 probands, these being the 11778A, 14484C, and 3460A mutations with 46 (56%), 13 (16%), and 1 (1%) cases, respectively. None of the other mtDNA mutations was detected. Of the 60 probands with LHON positive mutations, 19 (32%) had relevant family histories. Heteroplasmy was determined in 2 (4%) of the 46 probands with the 11778A mutation and 1 (8%) of the 13 probands with the 14484C mutation. In conclusion, the 11778A mutation was the most common cause (56%), with a high prevalence of the 14484C and a lower prevalence of the 3460A mutations being characteristic of Korean patients with LHON. The 3460A mutation especially showed a remarkable racial difference from that in Caucasians. With the exceptions of the 3460A, 11778A, and 14484C, the mutations screened may not be involved in the pathogenesis of LHON in Koreans and may not have a synergistic effect on its clinical expression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0340-5354
pubmed:author
pubmed:issnType
Print
pubmed:volume
250
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
278-81
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans.
pubmed:affiliation
Department of Clinical Pathology, Seoul National University Hospital, Seoul 110-744, Korea.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't