Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran.

ABSTRACT:

Introduction

Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SHANK3 gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein. The present study aimed to evaluate whether rs9616915 polymorphism of SHANK3 is involved in the susceptibility to PD.

Methods

The study subjects were 100 patients diagnosed with PD and 100 control volunteers. The obtained samples were evaluated by the po

SUBMITTER: Mizban N 

PROVIDER: S-EPMC8114862 | biostudies-literature | 2021 Jan-Feb

REPOSITORIES: biostudies-literature