Splicing: is there an alternative contribution to Parkinson's disease?

Neurogenetics. 2015 Oct;16(4):245-63. doi: 10.1007/s10048-015-0449-x. Epub 2015 May 16.

Abstract

Alternative splicing is a crucial mechanism of gene expression regulation that enormously increases the coding potential of our genome and represents an intermediate step between messenger RNA (mRNA) transcription and protein posttranslational modifications. Alternative splicing occupies a central position in the development and functions of the nervous system. Therefore, its deregulation frequently leads to several neurological human disorders. In the present review, we provide an updated overview on the impact of alternative splicing in Parkinson's disease (PD), the second most common neurodegenerative disorder worldwide. We will describe the alternative splicing of major PD-linked genes by collecting the current evidences about this intricate and not carefully explored aspect. Assessing the role of this mechanism on PD pathobiology may represent a central step toward an improved understanding of this complex disease.

Keywords: Alternative splicing; PD genes; Parkinson’s disease; Protein isoforms; mRNA splice transcripts.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing*
  • Animals
  • Brain / metabolism*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Oncogene Proteins / genetics
  • Parkinson Disease / genetics*
  • Protein Deglycase DJ-1
  • Protein Kinases / genetics
  • Protein Serine-Threonine Kinases / genetics
  • RNA, Messenger / metabolism
  • Ubiquitin-Protein Ligases / genetics
  • Vesicular Transport Proteins / genetics
  • alpha-Synuclein / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • RNA, Messenger
  • SNCA protein, human
  • VPS35 protein, human
  • Vesicular Transport Proteins
  • alpha-Synuclein
  • Ubiquitin-Protein Ligases
  • parkin protein
  • Protein Kinases
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • PTEN-induced putative kinase
  • Protein Serine-Threonine Kinases
  • PARK7 protein, human
  • Protein Deglycase DJ-1