Disease - EDK - BIG Data Center

Disease name	Parkinson's Disease
Classfication	Nervous system disease
Related Enzyme(s)
EFO	-
DOID	14330
OMIM	OMIM:168600 OMIM:300557 OMIM:556500 OMIM:602404 OMIM:606852 OMIM:613164
NCI	NCI:C26845
Definition	A synucleinopathy that has material basis in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.

Gene symbol	Species	Enzyme	Editing site(s)	Editing Type	PMID	RADAR	REDIportal	Description
PINK1	Human	ADAR2	1	A-to-I	27907896			Stop codon at position 437 in PINK1 are linked to an inheritable monogenetic form of Parkinson's disease(PD) and it results in the impairment of the Parkin-dependent perinuclear clustering and is characterized by a cellular phenotype: loss of mitophagy. So, some researchers apply RNA-editing technology to recode the mutation in PINK1(W437X) to rescue the PINK1/Parkin-mediated mitophagy.