In vivo models of Parkinson’s disease – Mammalian models

Genetic models

Parkin

The PARK2 gene coding for the Parkin (also known as ubiquitin E3 ligase) is located on the chromosome 6 (6q26) in the PARK2 locus. It is composed of 1380 kb forming 12 exons. The Parkin protein is composed of 465 amino acids (52 kDa) with an N-terminal ubiquitin-like domain and four zinc-finger domains.

PARK2 was the first gene associated with autosomal recessive Parkinson’s disease. Over fifty recessively inherited mutations have been found to be associated with autosomal recessive juvenile Parkinson disease including deletion, frame shift, non-sense, and missense mutations (see here for more information).

Parkin is activated by PINK1 and plays an importnat role in the clearance of dysfunctional mitochondria though autophagy.