|
Intramitochondrial quality control
|
| Paraplegin/SPG7 (m-AAA protease) |
IM, M |
Degradation of non-native proteins; protein processing |
Hereditary spastic paraplegia, AR (Casari et al, 1998) |
| AFG3L2 (m-AAA protease) |
IM, M |
Degradation of non-assembled and damaged proteins; protein processing |
Spinocerebellar ataxia SCA28, AD (Di Bella et al, 2010) |
| |
|
|
Spastic ataxia neuropathy syndrome, AR (Pierson et al, 2011) |
| HTRA2/OMI |
IMS |
Degradation of damaged proteins; regulation of apoptosis |
Parkinson's disease (?) |
| PARL |
IM |
Processing of PINK1, anti-apoptotic activity |
Parkinson's disease |
| PreP |
M |
Degradation of presequences and oligopeptides, Aβ degradation |
Alzheimer's disease (?) |
| HSP60 |
M |
Protein folding, protection against heat stress |
Hereditary spastic paraplegia, AD (Hansen et al, 2002); Mit-CHAP60, AR (Magen et al, 2008) |
| |
|
|
|
Organellar quality control
|
| Mfn2 |
OM, MAM |
Fusion of OM, axonal transport of mitochondria, ER-mitochondria interaction |
Charcot-Marie Tooth diseases 2A, AD (Zuchner et al, 2006) |
| OPA1 |
IM, IMS |
Fusion of IM, cristae morphogenesis, mtDNA stability |
Dominant optic atrophy, AD (Alexander et al, 2000; Delettre et al, 2000) |
| GDAP1 |
IM |
Mitochondrial fission |
Charcot-Marie-Tooth disease 4A, AD, AR (Baxter et al, 2002) |
| Parkin |
Cyt, OM |
Mitophagy |
Parkinson's disease (Kitada et al, 1998) |
| PINK1 |
IM, OM |
Mitophagy |
Parkinson's disease (Valente et al, 2004) |
| AD, autosomal dominant; AR, autosomal recessive; IM, inner membrane; IMS, intermembrane space; M, matrix; MAM, mitochondria-associated membrane; OM, outer membrane. |
| Genes unambiguously identified in neurodegenerative diseases are referenced. |
