Table 1.
Lists of disorders related to mitochondrial-membrane proteins involved in mitochondrial-genome organization and maintenance.
| Mechanism | Gene | Disease | Inheritance |
|---|---|---|---|
| Nucleoid Organization | TFAM | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) (MIM#617156) | AR |
| TWNK | autosomal recessive infantile-onset spinocerebellar ataxia (IOSCA) (MIM# 271245) | AR | |
| Perrault syndrome (MIM#:616138) | AR | ||
| ATAD3A | Harel–Yoon syndrome (MIM#617183) | AR/AD | |
| Cerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (MIM#618810) | AR | ||
| Mitochondrial fission and fusion | DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (MIM#614388) | AR/AD |
| Optic atrophy 5 (MIM#610708) | AD | ||
| MFF | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (MIM#617068) | AR | |
| OPA1 | Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) (MIM#616896) | AR | |
| Behr syndrome (MIM#210000) | AR | ||
| Optic atrophy 1 (MIM#165500) | AD | ||
| Optic atrophy plus syndrome (MIM#125250) | AD | ||
| MFN2 | Charcot–Marie–Tooth disease, axonal, type 2A2 (MIM# 609260/617087) | AD/AR | |
| Optic atrophy plus syndrome | AD | ||
| Cardiolipin Remodeling | TAFFAZIN | Barth syndrome (MIM#302060) | XLR |
| Mitochondrial membrane transporters | MPV17 | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) (MIM#256810) | AR |
| Charcot–Marie–Tooth disease, axonal, type 2EE (MIM#618400) | AR | ||
| SLC25A4 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (MIM#609382) | AD | |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (MIM#617184/615418) | AR/AD |