Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy.

Herein we report a significant association between the mtDNA 7028 C allele and LOAD. LOAD patients also showed a higher frequency of D310 >7C alleles, that were linked to a high degree of heteroplasmy at this polyC tract. The mtDNA 7028C + D310>7C haplogroup would thus represent a new genetic marker for LOAD.
Neurogenetics. 2011 Nov;12(4):345-6 Full text