Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

ABSTRACT:

Objective

Mutations in the α-synuclein-encoding gene SNCA are considered as a rare cause of Parkinson's disease (PD). Our objective was to examine the frequency of the SNCA point mutations among PD patients of Polish origin.

Methods

Detection of the known SNCA point mutations A30P (c.88G>C), E46K (c.136G>A) and A53T (c.157A>T) was performed either using the Sequenom MassArray iPLEX platform or by direct sequencing of the SNCA exons 2 and 3. As the two novel substitutions A18T (c.52G>A) and A29S (c.85G>T) were identified, their frequency in a control population of Polish origin was assessed and in silico analysis performed to investigate the potential impact on protein structure and function.

Results

We did not observe the previously reported point mutations in the SNC

SUBMITTER: Hoffman-Zacharska D 

PROVIDER: S-EPMC4055791 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature