Table 1: Associations between mitochondrial haplogroups and mtDNA mutations with diseases.

Haplogroups Associations Therapeutic applications
H Predictor of survival in severe sepsis [37] Patient stratification
J, U5 Accelerated AIDS progression [52]
H3, Uk, IWX Protection against AIDS progression [52]
CZD Good disease-free survival in Squamous cell carcinoma patients [47]
R Predictor of survival in severe sepsis [38]
B4 Increased risk of diabetes [30] Biomarker
H Increased risk of ischemic cardiomiopathy [61]
J Increased frequency of optic neuropathy in LHON [36],
and age related macular degeneration [31],
Decreased incidence of ischemic cardiomiopathy [61]
N Increased risk of Breast Cancer and esophageal squamous cell carcinoma [45]
N9a Protective for metabolic syndrome [28]
U Increased risk of prostate and renal cancer [46]
Reduced risk of exfoliation glaucoma [62]
T Increased risk of morbid obesity [29]
Mutations Associations Therapeutic applications
11778 G to A Leber Hereditary Optic Neuropathy(LHON) [63] Diagnosis
3460 A to G and 14884 T to C Leigh Syndrome [64]
8993 T to G Nuerogenic Muscle weakness, ataxia, and retinitis pigmentosa (NARP) [64]
8344 A to G Myoclonus Epilepsy and Ragged-Red Fibers(MERRF) [65]
3243 A to G Mitochondrial Encephalopathy, lactic acidosis and stroke-like symptoms(MELAS) [66]