No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy

Neurosci Lett. 1999 Jul 30;270(2):110-2. doi: 10.1016/s0304-3940(99)00475-9.

Abstract

To determine whether mutations in the coding region of the alpha-synuclein gene are relevant in cases of multiple system atrophy (MSA), detailed nucleotide sequence analysis of the alpha-synuclein gene was performed using total RNA obtained from autopsied brain specimens of 11 pathologically confirmed cases of MSA. The brain specimens used in this study contained both gray and white matter, which were dissected from the frontal, temporal or occipital lobe. No nucleotide alterations were found in the entire coding region of the alpha-synuclein gene in any of the cases. While mutations in the regulatory or intronic regions of the gene were not ruled out, our results suggest that mutations in the coding region of the alpha-synuclein gene are unlikely to contribute to the pathogenesis of MSA.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Base Sequence / genetics
  • Cadaver
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Multiple System Atrophy / genetics*
  • Multiple System Atrophy / pathology
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • RNA / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Synucleins
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • RNA

Associated data

  • GENBANK/L08850