RGD Reference Report - The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. - Rat Genome Database

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The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

Authors: Mayorov, V  Biousse, V  Newman, NJ  Brown, MD 
Citation: Mayorov V, etal., Ann Neurol. 2005 Nov;58(5):807-11.
RGD ID: 1581060
Pubmed: PMID:16240359   (View Abstract at PubMed)
DOI: DOI:10.1002/ana.20669   (Journal Full-text)

Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene, is not found in controls, and is heteroplasmic. Despite ND5 being the largest of the mtDNA complex I genes, ND5 mutations are quite rare in LHON.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Leber hereditary optic neuropathy  IAGP 1581060 RGD 
Leber hereditary optic neuropathy  ISOMT-ND5 (Homo sapiens)1581060; 1581060 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mt-nd5  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5)

Genes (Mus musculus)
mt-Nd5  (NADH dehydrogenase 5, mitochondrial)

Genes (Homo sapiens)
MT-ND5  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5)


Additional Information