A growth-factor-activated lysosomal K+ channel regulates Parkinson's pathology

Nature. 2021 Mar;591(7850):431-437. doi: 10.1038/s41586-021-03185-z. Epub 2021 Jan 27.

Abstract

Lysosomes have fundamental physiological roles and have previously been implicated in Parkinson's disease1-5. However, how extracellular growth factors communicate with intracellular organelles to control lysosomal function is not well understood. Here we report a lysosomal K+ channel complex that is activated by growth factors and gated by protein kinase B (AKT) that we term lysoKGF. LysoKGF consists of a pore-forming protein TMEM175 and AKT: TMEM175 is opened by conformational changes in, but not the catalytic activity of, AKT. The minor allele at rs34311866, a common variant in TMEM175, is associated with an increased risk of developing Parkinson's disease and reduces channel currents. Reduction in lysoKGF function predisposes neurons to stress-induced damage and accelerates the accumulation of pathological α-synuclein. By contrast, the minor allele at rs3488217-another common variant of TMEM175, which is associated with a decreased risk of developing Parkinson's disease-produces a gain-of-function in lysoKGF during cell starvation, and enables neuronal resistance to damage. Deficiency in TMEM175 leads to a loss of dopaminergic neurons and impairment in motor function in mice, and a TMEM175 loss-of-function variant is nominally associated with accelerated rates of cognitive and motor decline in humans with Parkinson's disease. Together, our studies uncover a pathway by which extracellular growth factors regulate intracellular organelle function, and establish a targetable mechanism by which common variants of TMEM175 confer risk for Parkinson's disease.

Publication types

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

MeSH terms

  • Animals
  • Biocatalysis
  • Dopaminergic Neurons / metabolism
  • Female
  • Gain of Function Mutation
  • HEK293 Cells
  • Humans
  • Intercellular Signaling Peptides and Proteins / metabolism*
  • Loss of Function Mutation
  • Lysosomes / metabolism*
  • Male
  • Mice
  • Mice, Knockout
  • Motor Skills
  • Multiprotein Complexes / chemistry
  • Multiprotein Complexes / deficiency
  • Multiprotein Complexes / genetics
  • Multiprotein Complexes / metabolism*
  • Parkinson Disease / genetics
  • Parkinson Disease / metabolism*
  • Parkinson Disease / pathology*
  • Potassium / metabolism*
  • Potassium Channels / chemistry
  • Potassium Channels / deficiency
  • Potassium Channels / genetics
  • Potassium Channels / metabolism*
  • Protein Binding
  • Proto-Oncogene Proteins c-akt / metabolism
  • alpha-Synuclein / metabolism

Substances

  • Intercellular Signaling Peptides and Proteins
  • Multiprotein Complexes
  • Potassium Channels
  • TMEM175 protein, human
  • alpha-Synuclein
  • Proto-Oncogene Proteins c-akt
  • Potassium