Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis

FASEB J. 2012 Apr;26(4):1526-34. doi: 10.1096/fj.11-198317. Epub 2012 Jan 6.

Abstract

Chorea-acanthocytosis is an inevitably lethal genetic disease characterized by a progressive hyperkinetic movement disorder and cognitive and behavioral abnormalities as well as acanthocytosis. The disease is caused by loss-of-function mutations of the gene encoding vacuolar protein sorting-associated protein 13A (VPS13A) or chorein, a protein with unknown function expressed in various cell types. How chorein deficiency leads to the pathophysiology of chorea-acanthocytosis remains enigmatic. Here we show decreased phosphoinositide-3-kinase (PI3K)-p85-subunit phosphorylation, ras-related C3 botulinum toxin substrate 1 (Rac1) activity, and p21 protein-activated kinase 1 (PAK1) phosphorylation as well as depolymerized cortical actin in erythrocytes from patients with chorea-acanthocytosis and in K562-erythrocytic cells following chorein silencing. Pharmacological inhibition of PI3K, Rac1, or PAK1 similarly triggered actin depolymerization. Moreover, in K562 cells, both chorein silencing and PAK1 inhibition with IPA-3 decreased phosphorylation of Bad, a Bcl2-associated protein, promoting apoptosis by forming mitochondrial pores, followed by mitochondrial depolarization, DNA fragmentation, and phosphatidylserine exposure at the cell surface, all hallmarks of apoptosis. Our observations reveal chorein as a novel powerful regulator of cytoskeletal architecture and cell survival, thus explaining erythrocyte misshape and possibly neurodegeneration in chorea-acanthocytosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acanthocytes / cytology
  • Acanthocytes / metabolism
  • Actins / metabolism*
  • Adult
  • Aged
  • Animals
  • Apoptosis / physiology*
  • Erythrocytes / cytology
  • Erythrocytes / metabolism
  • Female
  • Gene Silencing
  • Humans
  • K562 Cells
  • Male
  • Middle Aged
  • Mutation
  • Neuroacanthocytosis / genetics
  • Neuroacanthocytosis / pathology*
  • Neuroacanthocytosis / physiopathology*
  • Phosphatidylinositol 3-Kinases / genetics
  • Phosphatidylinositol 3-Kinases / metabolism
  • Vesicular Transport Proteins / genetics
  • Vesicular Transport Proteins / metabolism*
  • Young Adult
  • bcl-Associated Death Protein / genetics
  • bcl-Associated Death Protein / metabolism
  • p21-Activated Kinases / genetics
  • p21-Activated Kinases / metabolism
  • rac1 GTP-Binding Protein / genetics
  • rac1 GTP-Binding Protein / metabolism

Substances

  • Actins
  • VPS13A protein, human
  • Vesicular Transport Proteins
  • bcl-Associated Death Protein
  • Phosphatidylinositol 3-Kinases
  • PAK1 protein, human
  • p21-Activated Kinases
  • rac1 GTP-Binding Protein