RGD Reference Report - Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease. - Rat Genome Database

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Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease.

Authors: Petruzzella, V  Chen, X  Schon, EA 
Citation: Petruzzella V, etal., Biochem Biophys Res Commun. 1992 Jul 15;186(1):491-7.
RGD ID: 5507833
Pubmed: PMID:1352971   (View Abstract at PubMed)

A specific mitochondrial DNA mutation at position 5460 in the ND2 gene of the human mitochondrial genome was recently reported to exist in 10 of 19 patients with Alzheimer's disease, implying an association between this mtDNA mutation and the occurrence of the disease. We have analyzed tissues from 15 patients with Alzheimer's disease for the presence of the ND2 mutation, and have not been able to confirm these findings. We believe that this mutation is not specifically associated with Alzheimer's disease, but rather, is a neutral polymorphism present in the population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease no_associationIAGP 5507833DNA:mutation::m.5460G>ARGD 
Alzheimer's disease no_associationISOMT-ND2 (Homo sapiens)5507833; 5507833DNA:mutation::m.5460G>A (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mt-nd2  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2)

Genes (Mus musculus)
mt-Nd2  (NADH dehydrogenase 2, mitochondrial)

Genes (Homo sapiens)
MT-ND2  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2)


Additional Information