Identification and characterization of a new alpha-synuclein isoform and its role in Lewy body diseases

Neurogenetics. 2008 Feb;9(1):15-23. doi: 10.1007/s10048-007-0106-0. Epub 2007 Oct 23.

Abstract

Alternative splicing is an important mechanism to generate a large number of mRNAs, thus increasing proteome diversity and tissue specificity. Three transcript variants of alpha-synuclein, a neuronal protein mainly involved in synapses, have been described so far. Whereas alpha-synuclein 140 is the whole and main transcript, alpha-synuclein 112 and 126 are short proteins that result from in-frame deletions of exons 3 and 5, respectively. Because the aforesaid alpha-synuclein isoforms show differential expression changes in Lewy body diseases (LBDs), in the present work, we searched for a fourth alpha-synuclein isoform and studied its expression levels in LBD brains. By using isoform-specific primers, isoform co-amplification and direct sequencing, we identified alpha-synuclein 98, which lacks exons 3 and 5. mRNA expression analyses in non-neuronal tissue revealed that alpha-synuclein 98 is a brain-specific splice variant with varying expression levels in different areas of fetal and adult brain. Additionally, we studied alpha-synuclein 98 expression levels by real-time semi-quantitative RT-PCR in the frontal cortices of LBD patients and compared them with those of Alzheimer disease (AD) patients and control subjects. Overexpression of alpha-synuclein 98 in LBD and AD brains would indicate its specific involvement in the pathogenesis of these neurodegenerative disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing
  • Alzheimer Disease / etiology
  • Alzheimer Disease / genetics
  • Alzheimer Disease / metabolism
  • Amino Acid Sequence
  • Base Sequence
  • Brain / metabolism*
  • Case-Control Studies
  • DNA Primers / genetics
  • Exons
  • Fetus / metabolism
  • Frontal Lobe / metabolism
  • Gene Expression
  • Humans
  • Lewy Body Disease / etiology
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / metabolism*
  • Molecular Sequence Data
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Homology, Amino Acid
  • alpha-Synuclein / chemistry
  • alpha-Synuclein / genetics*
  • alpha-Synuclein / metabolism*

Substances

  • DNA Primers
  • Protein Isoforms
  • RNA, Messenger
  • SNCA protein, human
  • alpha-Synuclein