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Abnormal apocrine secretory cell mitochondria in a Huntington disease patient

Christos Sidiropoulos1, Peter LeWitt, Ken Hashimoto

  • 1Department of Neurology, Henry Ford Hospital, Wayne State University School of Medicine, Detroit, MI 48322, USA.

Journal of the Neurological Sciences
|September 19, 2012
PubMed

Insights

Huntington's disease (HD) involves mitochondrial abnormalities, particularly in apocrine cells, affecting involuntary movements. These cellular changes suggest a systemic mitochondrial disturbance in patients with HD.

Area of Science:

  • Neuroscience
  • Cell Biology
  • Genetics

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder.
  • Characterized by chorea, dystonia, and tics, often with a late onset.
  • Genetic testing reveals CAG repeat expansion in the HTT gene.

Observation:

  • A 42-year-old woman presented with a 20-year history of movement disorders.
  • Diagnosis of HD confirmed by PET scan and genetic testing.
  • Skin biopsy showed unique mitochondrial abnormalities in apocrine secretory cells.

Findings:

  • Mitochondria in apocrine cells were enlarged, rounded, with disrupted cristae and myelin figures.
  • Apocrine cells contained abundant lipid vacuoles and vesicles.
  • Skeletal muscle histology and mitochondrial function tests were normal in this patient.

Implications:

  • Mitochondrial dysfunction may be a systemic feature of Huntington's disease.
  • Similar mitochondrial changes observed in neurons, muscle, fibroblasts, and lymphoblasts of other HD patients.
  • Further research into mitochondrial pathways could reveal novel therapeutic targets for HD.

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