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The pathogenesis of cardiomyopathy in Friedreich ataxia

Arnulf H Koeppen1, R Liane Ramirez2, Alyssa B Becker2

  • 1Research, Neurology, and Pathology Services, Veterans Affairs Medical Center, Albany, New York, United States of America; Departments of Neurology and Pathology, Albany Medical College, Albany, New York, United States of America.

Plos One
|March 5, 2015
PubMed

Insights

Friedreich ataxia (FA) cardiomyopathy involves cardiomyocyte hypertrophy and iron accumulation, despite normal total iron levels. Inflammation and hepcidin contribute to heart damage, suggesting frataxin replacement and anti-inflammatory therapies.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Friedreich ataxia (FA) is an inherited neurodegenerative disorder.
  • Cardiac failure is the primary cause of mortality in FA patients.
  • Understanding FA cardiomyopathy's mechanisms is crucial for therapeutic development.

Purpose of the Study:

  • To systematically analyze cardiac pathology in FA.
  • To investigate iron (Fe) and zinc (Zn) metabolism in FA hearts.
  • To assess the role of inflammation in FA cardiomyopathy.

Main Methods:

  • Analysis of autopsy heart tissues from FA patients and controls.
  • Measurement of cardiomyocyte size, frataxin levels, and metal content (Fe, Zn).
  • Histochemical and immunohistochemical analysis for iron, ferritin, and inflammatory markers (CD68, hepcidin).

Main Results:

  • FA hearts showed significant cardiomyocyte hypertrophy and fibrosis.
  • Reduced frataxin levels and localized iron accumulation in cardiomyocytes.
  • Evidence of myocarditis, with inflammatory cells expressing CD68 and hepcidin.
  • Ferritin expression indicated cellular iron responses.

Conclusions:

  • FA cardiomyopathy is characterized by iron dysregulation and inflammation.
  • Hepcidin-mediated iron dysregulation in macrophages may contribute to cardiac damage.
  • Frataxin replacement and anti-inflammatory therapies are potential treatment strategies for FA cardiomyopathy.

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