Introduction
Mitochondrial genome and genetics
Genome
Complex | Genes nuclear DNA | Genes mitochondrial DNA | Total genes |
---|---|---|---|
Complex I [14] (Blue) | 38 | 7 | 45 |
Complex II [15] | 4 | 0 | 4 |
Complex III [16] (Orange) | 10 | 1 | 11 |
Complex IV [17] (Yellow) | 10 | 3 | 13 |
Complex V [18] (Red) | 14 | 2 | 16 |
Category | Mutation | Reference |
---|---|---|
Isolated proximal tubulopathy | 2.8 kbp deletion | Szalbocs et al. [55] |
KSS | 5 kbp deletion | Shoffner et al. [50] |
KSS | 5.4 kbp deletion | Mori et al. [48] |
KSS/PMPS | 7.4 kbp deletion | Lee et al. [54] |
PMPS | 3.3 kbp deletion | Solano et al. [45] |
PMPS | 4977 bp deletion | Niaudet et al. [51] |
PMPS | 5.7 kbp deletion | Majander et al. [52] |
CCO | 7.3 kbp deletion | Au et al. [53] |
Genetics
Tubular defects
Proximal tubular dysfunction
Mutations
Distal tubular dysfunction
Mutations
Category | Mutation | Reference |
---|---|---|
Hypomagnesemia and hypokalaemia | T4291C | Wilson et al. [8] |
Hypomagnesemia and hypokalaemia | 8.8 kbp deletion | Goto et al. [49] |
Hypoparathyroidism | 7813 bp deletion 8348 bp deletion 8587 bp deletion 9485 bp deletion | Wilichowski et al. [65] |
Hypoparathyroidism | 6 kbp deletion | Lee et al. [67] |
Hypoparathyroidism | 6741 bp deletion | Isotani et al. [68] |
Hypoparathyroidism with hypomagnesemia and hypokalaemia | 8661 bp deletion | Emma et al. [70] |
Tubulopathy with PMPS | 8034 bp deletion | Van Ouweland et al. [71] |
Category | Mutation | Reference |
---|---|---|
FSGS | A3243G | Dinour et al. [73] |
End stage renal disease (FSGS) | A3243G | Mima et al. [74] |
FSGS | A4269G | Taniike et al. [76] |
FSGS | G5538A | Lim et al. [77] |
FSGS | A5728G | Meulemans et al. [79] |
FSGS | A5843G | Scaglia et al. [78] |
FSGS | 2905 bp deletion | Becher et al. [80] |