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Chorea-acanthocytosis presenting with epilepsy at onset harboring novel compound heterozygous <i>VPS13A</i> mutations.

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Author Spotlight: Tracing the Ferroptotic Signatures and Cell Death Dynamics in Medulloblastoma for Advanced Therapeutics
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Chorein deficiency promotes ferroptosis.

Yoshiaki Nishizawa1,2, Hitoshi Sakimoto1, Omi Nagata1

  • 1Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.

FEBS Open Bio
|November 8, 2024
PubMed
Summary

Chorea-acanthocytosis (ChAc) is linked to ferroptosis, a cell death pathway driven by iron accumulation. VPS13A deficiency impairs iron removal and glutathione peroxidase 4 transport, contributing to neurodegeneration in ChAc.

Keywords:
VPS13Achorea‐acanthocytosischoreinferroptosisferrous ironglutathione peroxidase 4

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Area of Science:

  • Cell Biology
  • Neuroscience
  • Biochemistry

Background:

  • Ferroptosis is iron-dependent programmed cell death involving lipid peroxidation.
  • VPS13A deficiency causes chorea-acanthocytosis (ChAc), a neurodegenerative disease.
  • Previous studies linked ChAc to male infertility and oxidative stress.

Purpose of the Study:

  • To investigate the role of VPS13A deficiency in ferroptosis.
  • To explore the mechanism by which VPS13A dysfunction contributes to ChAc pathology.

Main Methods:

  • Metabolome analysis of sperm from ChAc model mice.
  • VPS13A knockdown (VPS13A-KD) in HEK293 cells.
  • Assessment of cell viability, lipid peroxidation, iron accumulation, and GPX4 levels.

Main Results:

  • ChAc model mice sperm showed decreased cystine levels.
  • VPS13A-KD cells exhibited reduced resistance to ferroptosis induction.
  • VPS13A-KD cells accumulated iron and showed reduced GPX4 protein levels.
  • Ferrostatin-1 treatment rescued ferroptosis in VPS13A-KD cells.

Conclusions:

  • VPS13A deficiency is associated with ferroptosis.
  • Chorein dysfunction impairs iron homeostasis and GPX4 transport, promoting ferroptosis.
  • Ferroptosis may be a key mechanism in ChAc neurodegeneration.