EDK
Editome Disease Knowledgebase
Parkinson's Disease
| Disease name | Parkinson's Disease |
|---|---|
| Classfication | Nervous system disease |
| Related Enzyme(s) | |
| EFO | - |
| DOID | 14330 |
| OMIM | |
| NCI | |
| 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 | 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. |