Table 2.
Genetic mutations associated with mitochondrial disorders.
| Disease | Mutations |
|---|---|
| MELAS | A324G (80% of cases), T3271C, A3252G, T9957C, 14787del4, G14453A, A13084T, A13045C, A12770G, A11084G, T3949C, G3946A, G3697A, G3376A, T3308C, A13514G, G13513A, G3697 |
| Leigh Syndrome | Mutations to SURF1 gene, G13513A (WPW and HCM), 312del10/insAT, T8993C, T8993G, C688T, 772delCC, 751C>T, 845delCT, 868insT, G385A, G618C, T751C, A8344G, A3243G, G13513A, and C1177A. |
| MERRF | A8344G, T8356C, G8363A |
| MIDD | A3243G, point mutations at 568 and 8281 |
| NARP | Point mutations at 8993, mutations to MT-ATP6 gene (most commonly T8993G, then T8993C), G8839C, G8989C, 8618insT, T9185C, and a 2 bp microdeletion 9127e9128 del AT |
| GRACILE | Homozygous point mutation A232G within the BCS1L gene |
| MNGIE | Loss of function mutations to thymidine phosphorylase (TP) gene, chromosome 22q13.32-qter |
| Barth Syndrome | G4.5 gene (TAZ gene) on Xq28 |
| LHON | 90% caused by G11778A (ND4 gene), G3460A (ND1 gene), and the T14484C (NG6 gene) which all cause dysfunction in complex I |
| Pearson Syndrome | Large deletions ranging from 4.9–14 kb |
| Kearns-Sayre Syndrome | Large deletions ranging from 1000 to 10,000 base pairs |
| CPEO | Large mtDNA deletions similar to PS or KSS, AD form: mutations to nuclear-encoded genes ANT1, C10orf2 and POLG |
| Freiderich’s Ataxia | Expansion of DNA triplet intron repeat GAA in the frataxin (FXN) gene |
*Principal mutations of each disorder are bolded (that most frequently attributed to each disease).