Parkinson’s disease - Genetic Mutations

The cause of sporadic Parkinson’s disease is still unclear. Major risk factors include age, not smoking, and living in rural areas. Familial forms of PD are rare accounting for less than 5% of all cases of PD. However, elucidation of several genes over the last decade has shed considerable light on the pathogenesis of typical sporadic PD (Table 2).

Locus	Inheritance	Gene	Function	Pathogenesis
PARK1/4	AD	α-synuclein	Unknown	Protein aggregation
PARK2	AR	parkin	Ub E3 ligase	UPS dysfunction
PARK3	AD	Unknown	-	-
PARK5	AD	UCHL1	Ub hydrolase	UPS dysfunction
PARK6	AR	PINK1	Kinase	Mitochondrial dysfunction
PARK7	AR	DJ-1	Binds RNA?	Oxidative stress
PARK8	AD	LRRK2	Kinase	Multiple pathways?
PARK9	AR	ATP13A2	P-type ATPase	Lysosomal dysfunction
PARK10	Susceptibility locus	-	-	-
PARK11	AD	GIGYF2	Unknown	-