RGD Reference Report - The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. - Rat Genome Database

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The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.

Authors: Valentino, ML  Barboni, P  Rengo, C  Achilli, A  Torroni, A  Lodi, R  Tonon, C  Barbiroli, B  Fortuna, F  Montagna, P  Baruzzi, A  Carelli, V 
Citation: Valentino ML, etal., J Med Genet. 2006 Jul;43(7):e38.
RGD ID: 5491202
Pubmed: PMID:16816025   (View Abstract at PubMed)
PMCID: PMC2564567   (View Article at PubMed Central)
DOI: DOI:10.1136/jmg.2005.037507   (Journal Full-text)

BACKGROUND: Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot. OBJECTIVE: To identify the mtDNA defect in a family with a prevalent ocular phenotype, including LHON-like optic neuropathy, retinopathy, and cataract, but characterised also by strokes, early deaths, and miscarriages on the maternal line. RESULTS: Sequencing of the entire mitochondrial genome from the proband's muscle DNA identified the heteroplasmic 13042G-->A transition, which was previously described only once in a patient with a different mitochondrial disease. This mutation fulfils the major pathogenic criteria, inducing an amino acid change (A236T) at an invariant position in a highly conserved domain of the ND5 gene. Phosphorus magnetic resonance spectroscopy in the proband disclosed an in vivo brain and skeletal muscle energy metabolism deficit. CONCLUSIONS: These findings conclusively establish the pathogenic role of the 13042G-->A mutation and underscore its variable clinical expression.



Disease Annotations    

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