Source:http://linkedlifedata.com/resource/pubmed/id/19458970
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2009-10-1
|
| pubmed:abstractText |
Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G>A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G>A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
1364-6753
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
10
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
337-45
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| pubmed:meshHeading |
pubmed-meshheading:19458970-Adolescent,
pubmed-meshheading:19458970-Adult,
pubmed-meshheading:19458970-Aged,
pubmed-meshheading:19458970-Amino Acid Sequence,
pubmed-meshheading:19458970-Animals,
pubmed-meshheading:19458970-Asian Continental Ancestry Group,
pubmed-meshheading:19458970-Base Sequence,
pubmed-meshheading:19458970-Brain,
pubmed-meshheading:19458970-Child,
pubmed-meshheading:19458970-Child, Preschool,
pubmed-meshheading:19458970-DNA Mutational Analysis,
pubmed-meshheading:19458970-Dystonia,
pubmed-meshheading:19458970-Electron Transport Complex I,
pubmed-meshheading:19458970-Eye,
pubmed-meshheading:19458970-Female,
pubmed-meshheading:19458970-Genes, Mitochondrial,
pubmed-meshheading:19458970-Humans,
pubmed-meshheading:19458970-Leigh Disease,
pubmed-meshheading:19458970-Male,
pubmed-meshheading:19458970-Molecular Sequence Data,
pubmed-meshheading:19458970-Optic Atrophy, Hereditary, Leber,
pubmed-meshheading:19458970-Pedigree,
pubmed-meshheading:19458970-Point Mutation,
pubmed-meshheading:19458970-Polymorphism, Genetic,
pubmed-meshheading:19458970-Young Adult
|
| pubmed:year |
2009
|
| pubmed:articleTitle |
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
|
| pubmed:affiliation |
Department of Pathology and Pathophysiology, Graduate School, Peking Union Medical College, Beijing, China.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|