Table I. Genetic mutations in Alzheimer's Disease (AD) and Parkinson's Disease (PD).
Gene/protein | Pathology | Function | Form | Refs. |
---|---|---|---|---|
APP | Senile plaques | unknown | familial AD | Goate et al. 1991 |
PS1 | Senile plaques | Notch signaling | familial AD | Sherrington et al. 1995 |
PS2 | Senile plaques | Notch signaling | familial AD | Levy-Lahad et al. 1995 |
ApoE | Senile plaques & neurofibrillary tangles | cholesterol regulation and triglyceride metabolism | familial & sporadic AD | Corder et al. 1993; Strittmatter and Roses 1996 |
α-synuclein | Lewy bodies | synaptic vesicle processing | familial & sporadic PD | Polymeropoulos et al. 1997 |
DJ-1 | unknown | cellular stress response | familial PD | Kruger et al. 1998; Zarranz et al. 2004 |
LRRK2 | Lewy bodies | mitochondrial-associated protein kinase | familial & sporadic PD | Zimprich et al. 2004; Paisan-Ruiz et al. 2004 |
Parkin | Lewy bodies, rarely | ubiquitination of proteins | familial PD | Kitada et al. 1998 |
PINK-1 | unknown | mitochondrial kinase | familial PD | Valente et al. 2004 |
UCH-L1 | Lewy bodies | de-ubiquitination of proteins | familial & sporadic PD | Leroy et al. 1998 |