Table 1.
Point mutations of mitochondrial DNA associated with diabetes.
| Locus Type | Locus | Associated Diseases | Allele | Position | aaΔ or RNA | Reference | |
|---|---|---|---|---|---|---|---|
| 1 | tRNA | MT-TL1 | MELAS/Leigh Syndrome/DMDF/MIDD/SNHL/CPEO/MM/FSGS/ASD/Cardiac+multi-organ dysfunction | m.3243A>G | 3243 | tRNA Leu (UUR) | [5,7,10,27,28,29,30,31,32,33,34,35,36,37] |
| 2 | tRNA | MT-TL1 | MELAS; possible atherosclerosis risk | m.3256C>T | 3256 | tRNA Leu (UUR) | [38,39] |
| 3 | tRNA | MT-TL1 | MMC/MELAS | m.3260A>G | 3260 | tRNA Leu (UUR) | [38,39] |
| 4 | tRNA | MT-TL1 | MELAS/DM | m.3271T>C | 3271 | tRNA Leu (UUR) | [38,39,40] |
| 5 | tRNA | MT-TK | MERRF; Other—LD/Depressive mood disorder/leukoencephalopathy/HiCM | m.8344A>G | 8344 | tRNA Lys | [41,42] |
| 6 | Coding | MT-ATP6 | MIDD, renal insufficiency | m.9155A>G | 9155 | Q210R | [43] |
| 7 | tRNA | MT-TS2 | DMDF/RP + SNHL | m.12258C>A | 12258 | tRNA Ser (AGY) | [42,44] |
| 8 | tRNA | MT-TE | MM + DMDF/Encephalomyopathy/Dementia + diabetes + ophthalmoplegia | m.14709T>C | 14709 | tRNA Glu | [45,46,47,48] |
MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, DMDF: Diabetes Mellitus + DeaFness, MIDD: Mitochondrial Diabetes and Deafness, SNHL: SensoriNeural Hearing Loss, CPEO: Chronic Progressive External Ophthalmoplegia, MM: Mitochondrial Myopathy, FSGS: Focal Segmental Glomerular Sclerosis, ASD: Autism Spectrum Disorder, MMC: Maternal Myopathy and Cardiomyopathy, DM: Diabetes Mellitus, MERRF: Myoclonic Epilepsy and Ragged Red Muscle Fibers, LD: Leigh Disease, RP: Retinitis Pigmentosa