Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

There was a trend towards a greater number of rare homoplasmic point mutations in two genes in AD compared to controls; MT-RNR1 (AD; 30/282 (10.6%), Controls; 16/344 (4.7%)) ( p = 0.005)) and again MT-TR (AD; 6/282 (2.1%), Controls; 0/344) ( p = 0.008), although both failed to reach significance at the corrected threshold of p = 0.0014.

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