Defects in trafficking bridge Parkinson's disease pathology and genetics

Nature. 2016 Nov 10;539(7628):207-216. doi: 10.1038/nature20414.

Abstract

Parkinson's disease is a debilitating, age-associated movement disorder. A central aspect of the pathophysiology of Parkinson's disease is the progressive demise of midbrain dopamine neurons and their axonal projections, but the underlying causes of this loss are unclear. Advances in genetics and experimental model systems have illuminated an important role for defects in intracellular transport pathways to lysosomes. The accumulation of altered proteins and damaged mitochondria, particularly at axon terminals, ultimately might overwhelm the capacity of intracellular disposal mechanisms. Cell-extrinsic mechanisms, including inflammation and prion-like spreading, are proposed to have both protective and deleterious functions in Parkinson's disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Biological Transport / genetics
  • Endocytosis
  • Glucosylceramidase / genetics
  • Glucosylceramidase / metabolism
  • Humans
  • Inflammation / metabolism
  • Inflammation / pathology
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / metabolism
  • Lysosomes / metabolism
  • Models, Biological
  • Molecular Targeted Therapy
  • Neurons / metabolism
  • Neurons / pathology
  • Parkinson Disease* / genetics
  • Parkinson Disease* / metabolism
  • Parkinson Disease* / pathology
  • Parkinson Disease* / therapy
  • Prions / metabolism
  • Synaptic Vesicles / metabolism
  • alpha-Synuclein / metabolism

Substances

  • Prions
  • alpha-Synuclein
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Glucosylceramidase