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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Updated: Dec 26, 2025

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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Hyung-Lok Chung1, Michael F Wangler2, Paul C Marcogliese3

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

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|March 15, 2020
PubMed
Summary
This summary is machine-generated.

Loss or gain of function in acyl-CoA oxidase 1 (ACOX1) causes glial and neuronal loss. This study reveals distinct mechanisms for ACOX1 dysfunction, impacting neurodevelopment and lifespan.

Keywords:
ACOX1 deficiencyDrosophilaNACAROSSchwann cellsantioxidant NACAaxonal dystrophyfatty acid peroxidationvery long chain fatty acidswrapping glia

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Area of Science:

  • Neuroscience
  • Cell Biology
  • Biochemistry

Background:

  • Acyl-CoA oxidase 1 (ACOX1) is key in peroxisomal very-long-chain fatty acid (VLCFA) metabolism.
  • ACOX1 dysfunction is linked to neurodegenerative conditions.

Purpose of the Study:

  • Investigate the role of ACOX1 in glial cells and its impact on neuronal health.
  • Determine the mechanisms underlying neurodegeneration caused by ACOX1 loss or gain of function.

Main Methods:

  • Utilized Drosophila melanogaster models to study ACOX1 loss-of-function.
  • Analyzed a human ACOX1 variant (p.N237S) in Drosophila and murine Schwann cells.
  • Assessed neurodegeneration and employed antioxidant treatments.

Main Results:

  • Drosophila ACOX1 loss impairs development, lifespan, and causes glial/axonal loss.
  • The ACOX1 p.N237S variant increases enzyme activity, leading to reactive oxygen species (ROS) and neurodegeneration.
  • Antioxidant treatment mitigated p.N237S-induced neurodegeneration in flies and cells.

Conclusions:

  • Both loss and gain of ACOX1 function result in glial and neuronal loss.
  • Distinct pathogenic mechanisms necessitate different therapeutic strategies for ACOX1-related disorders.