Candidate genes for Parkinson disease: Lessons from pathogenesis

Priscilla De Rosa, Elettra Sara Marini, Vania Gelmetti, Enza Maria Valente

Research output: Contribution to journalArticle

Abstract

Parkinson disease (PD) is a multifactorial neurodegenerative disease characterized by the progressive loss of specific neuronal populations and accumulation of Lewy bodies in the brain, leading to motor and non-motor symptoms. In a small subset of patients, PD is dominantly or recessively inherited, while a number of susceptibility genetic loci have been identified through genome wide association studies. The discovery of genes mutated in PD and functional studies on their protein products have provided new insights into the molecular events leading to neurodegeneration, suggesting that few interconnected molecular pathways may be deranged in all forms of PD, triggering neuronal loss. Here, we summarize the most relevant findings implicating the main PD-related proteins in biological processes such as mitochondrial dysfunction, misfolded protein damage, alteration of cellular clearance systems, abnormal calcium handling and altered inflammatory response, which represent key targets for neuroprotection.

Original languageEnglish
Pages (from-to)68-76
Number of pages9
JournalClinica Chimica Acta
Volume449
DOIs
Publication statusPublished - Sep 20 2015

Fingerprint

Parkinson Disease
Genes
Neurodegenerative diseases
Biological Phenomena
Lewy Bodies
Proteins
Genetic Loci
Genome-Wide Association Study
Genetic Association Studies
Neurodegenerative Diseases
Brain
Calcium
Population

Keywords

  • Autophagy
  • Genetics
  • Inflammation
  • Misfolded protein damage
  • Mitochondria
  • Parkinson disease

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Candidate genes for Parkinson disease : Lessons from pathogenesis. / De Rosa, Priscilla; Marini, Elettra Sara; Gelmetti, Vania; Valente, Enza Maria.

In: Clinica Chimica Acta, Vol. 449, 20.09.2015, p. 68-76.

Research output: Contribution to journalArticle

De Rosa, Priscilla ; Marini, Elettra Sara ; Gelmetti, Vania ; Valente, Enza Maria. / Candidate genes for Parkinson disease : Lessons from pathogenesis. In: Clinica Chimica Acta. 2015 ; Vol. 449. pp. 68-76.
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