NO ASSOCIATION OF MUTATIONS AT NUCLEOTIDE-5460 OF MITOCHONDRIAL NADH DEHYDROGENASE WITH ALZHEIMERS-DISEASE

NADH dehydrogenase (EC 1.6.99.3) mutations at nucleotide 5460 of mitoc hondrial DNA (codon 331 of the ND2 subunit gene) have been associated with Alzheimer's disease (BBRC 182, 238-246, 1992; BBRC 189, 1202-1206 , 1992). We have sequenced codons 304-347 of this gene in 15 neuropath ologically confirmed cases of Alzheimer's disease. In addition, restri ction enzyme analysis was performed on the same cases and on 28 contro l brains. No mutations were detected in the Alzheimer brains but heter oplasmy for a G-->A transition at nucleotide 5460 of mtDNA was found i n the frontal cortex of a single control. Thus, our findings do not co nfirm reports of a significant association between mutations at nucleo tide 5460 of mitochondrial DNA and Alzheimer's disease. (C) 1994 Acade mic Press, Inc.