RGD Reference Report - Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. - Rat Genome Database

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Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.

Authors: Liang, M  Guan, M  Zhao, F  Zhou, X  Yuan, M  Tong, Y  Yang, L  Wei, QP  Sun, YH  Lu, F  Qu, J  Guan, MX 
Citation: Liang M, etal., Biochem Biophys Res Commun. 2009 Jun 5;383(3):286-92. Epub 2009 Mar 24.
RGD ID: 5508689
Pubmed: PMID:19324017   (View Abstract at PubMed)
PMCID: PMC2905379   (View Article at PubMed Central)
DOI: DOI:10.1016/j.bbrc.2009.03.097   (Journal Full-text)

We report here the clinical, genetic and molecular characterization of four Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T3394C (Y30H) mutation, which localized at a highly conserved tyrosine at position 30 of ND1, and distinct sets of mtDNA polymorphisms belonging to haplogroups D4b and M9a. The occurrence of T3394C mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. However, there was the absence of functionally significant mtDNA mutations in these four Chinese pedigrees carrying the T3394C mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated T3394C mutation.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MT-ND1HumanLeber hereditary optic neuropathy  IAGP DNA:snp:cds:m.3394T>C (human)RGD 
Mt-nd1RatLeber hereditary optic neuropathy  ISOMT-ND1 (Homo sapiens)DNA:snp:cds:m.3394T>C (human)RGD 
mt-Nd1MouseLeber hereditary optic neuropathy  ISOMT-ND1 (Homo sapiens)DNA:snp:cds:m.3394T>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MT-ND1HumanBlindness  IAGP DNA:snp:cds:m.3394T>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Mt-nd1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)

Genes (Mus musculus)
mt-Nd1  (NADH dehydrogenase 1, mitochondrial)

Genes (Homo sapiens)
MT-ND1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)


Additional Information