Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

ABSTRACT:

Background

 Cataract is characterized by light-scattering protein aggregates. The ubiquitin-proteasome system has been proposed a role in proteolytic removal of these protein aggregates. Ubiquitin carboxyl-terminal esterase L1 (UCHL1) is a de-ubiquitinating enzyme with important functions in recycling of ubiquitin. A protective role of the p.S18Y polymorphism of the UCHL1 gene has been shown in Parkinson`s disease. The current study aimed to examine possible effects on cataract formation.

Methods

 Patients with cataract (n = 493) and controls (n = 142) were analyzed for the UCHL1 p.S18Y polymorphism using dynamic allele-specific hybridization.

Results

 Significant differences were observed in allele and genotype frequencies of the p.S18Y polymorphism between controls

SUBMITTER: Rudolph T 

PROVIDER: S-EPMC3116718 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature