Genetics and Molecular Biology of Parkinson Disease

Simona Petrucci, Giuseppe Arena, Enza M. Valente

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Parkinson disease (PD) is one of the most common neurodegenerative disorders. Over the past 15. years, several genes have been identified that cause PD in a Mendelian fashion, or act as susceptibility factors. Study of the protein products encoded by these genes and the pathogenetic effect related to specific mutations has greatly improved our understanding of PD, indicating many cellular pathways that, when impaired, lead to neurodegeneration. In particular, mitochondrial dysfunction and alterations in intracellular clearance mechanisms such as autophagy and the ubiquitin-proteasome system result in oxidative stress and accumulation of misfolded proteins/damaged organelles, and represent critical processes in the etiology of both familiar and sporadic PD.

Original languageEnglish
Title of host publicationMovement Disorders: Genetics and Models: Second Edition
PublisherElsevier Inc.
Pages243-257
Number of pages15
ISBN (Print)9780124051959
DOIs
Publication statusPublished - Oct 29 2014

Keywords

  • Autophagy
  • DJ-1
  • Genetics
  • LRRK2
  • Mitochondria
  • Mitophagy
  • Parkin
  • Parkinson disease
  • PINK1
  • Ubiquitin-proteasome pathway
  • α-synuclein

ASJC Scopus subject areas

  • Medicine(all)

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