The Parkinson's disease-associated H50Q mutation accelerates α-Synuclein aggregation in vitro

Biochemistry. 2013 Oct 8;52(40):6925-7. doi: 10.1021/bi400999d. Epub 2013 Sep 23.

Abstract

α-Synuclein (α-Syn) aggregation is directly linked with Parkinson's disease (PD) pathogenesis. Here, we analyzed the aggregation of newly discovered α-Syn missense mutant H50Q in vitro and found that this mutation significantly accelerates the aggregation and amyloid formation of α-Syn. This mutation, however, did not alter the overall secondary structure as suggested by two-dimensional nuclear magnetic resonance and circular dichroism spectroscopy. The initial oligomerization study by cross-linking and chromatographic techniques suggested that this mutant oligomerizes to an extent similar to that of the wild-type α-Syn protein. Understanding the aggregation mechanism of this H50Q mutant may help to establish the aggregation and phenotypic relationship of this novel mutant in PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid / metabolism
  • Humans
  • Mutation, Missense
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Protein Multimerization*
  • Protein Structure, Quaternary
  • alpha-Synuclein / chemistry*
  • alpha-Synuclein / genetics*

Substances

  • Amyloid
  • alpha-Synuclein