Linked Life Data

21074518

Source:http://linkedlifedata.com/resource/pubmed/id/21074518

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-12-14
pubmed:abstractText
Leber hereditary optic neuropathy (LHON) is the most common cause of sudden blindness in young adults and is caused by mtDNA mutations. At least 30 mutations have been identified but only the three common mutations (m.3460G>A, m.11778G>A, and m.14484T>C) have been extensively studied. Most other mutations, including m.3635G>A, are considered as potential candidate LHON mutations due to a lack of enough evidence. The frequency of these potential candidate mutations in populations has not been determined. In this study, we performed a comprehensive survey of m.3635G>A in 1398 unrelated probands suspected to have LHON and detected the m.3635G>A mutation in 8 cases, including 4 probands with a family history of LHON. The mutation in 7 cases was homoplasmic, but the mutation in one patient was heteroplasmic. Patients with the m.3635G>A mutation demonstrated the typical phenotype of LHON. Our results provide strong evidence that similar to m.3460G>A, m.3635G>A is a pathogenic and common LHON mutation in the Chinese population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1090-2104
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
10
pubmed:volume
403
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
237-41
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.
pubmed:affiliation
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't