A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

ABSTRACT:

Introduction

Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes of autosomal dominant forms of Parkinson's Disease (PD).

Methods

Two families of Turkish origins with PD were studied; the SNCA coding region was analyzed by Sanger sequencing, and by whole exome sequencing (WES) in the index patient of the first and the second family, respectively. Co-segregation studies and haplotype analysis across the SNCA locus were carried out. Functional studies included in vitro thioflavin-T aggregation assay and in silico structural modelling of the alpha-synuclein (α-syn) protein.

Results

We identified a novel heterozygous SNCA variant, c.215C > T (p.Thr72Met), segregating with PD in a total of four members in the two families

SUBMITTER: Fevga C 

PROVIDER: S-EPMC8607441 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature