Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

Neurosci Lett. 1999 Oct 15;274(1):21-4. doi: 10.1016/s0304-3940(99)00673-4.

Abstract

The synucleins are a family of small proteins expressed in nervous tissue, which have been implicated in neurodegeneration. Using single strand conformation polymorphism analysis we screened for polymorphisms and mutations in the gene encoding human persyn, a recently discovered member of the synuclein family, in controls, patients with sporadic or familial amyotrophic lateral sclerosis (ALS) or familial Parkinson's disease (PD). Six polymorphisms in the genomic sequence of persyn were detected; A590C (5' untranslated region), G1943C (exon 3), G2049A (intron 3), T4502C (intron 3), T4552A (exon 4) and C5019T (3' untranslated region). However no associations with disease state were found in our sample group.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics*
  • Neoplasm Proteins*
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics
  • gamma-Synuclein

Substances

  • Neoplasm Proteins
  • Nerve Tissue Proteins
  • SNCG protein, human
  • gamma-Synuclein

Associated data

  • GENBANK/AF017256
  • GENBANK/AF037207