Cardiomyopathy is a frequent cause of death in patients with Friedreich ataxia (FA),
and a characteristic pathological feature is the focal accumulation of iron (Fe) in
cardiomyocytes. This restricted localization of the metal contrasts with the diffuse
cardiac Fe overload in hemochromatosis and transfusion siderosis. Nevertheless, heart
Fe in FA contributes to cardiomyocyte necrosis, inflammation, and scarring as the
disease progresses. A putative mechanism of cardiomyopathy in FA is Fe-mediated oxidative
damage. Two other transition metals zinc (Zn) and copper (Cu), are diffusely distributed
throughout normal hearts and the hearts of patients with FA. The myocardium in FA
is also prone to deposits of calcium in the form of scattered concretions. In this
study, heart tissues (left and right ventricular walls and ventricular septum) of
23 patients with genetically confirmed FA and 8 normal controls were obtained at autopsy
and analyzed for Fe, Zn, Cu, and calcium. The principal assay methods were inductively
coupled plasma optical emission spectrometry and plasma mass spectrometry. Total levels
of Fe in bulk extracts were not significantly higher than normal, and the concentrations
of Zn also remained in the normal range. Cu levels, however, were significantly lower
in FA. In conclusion, the decrease of Cu may be important in consideration of the
potential benefit of Cu supplements in FA cardiomyopathy.
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Article Info
Publication History
Published online: April 19, 2016
Accepted:
April 13,
2016
Received in revised form:
April 13,
2016
Received:
February 4,
2016
Footnotes
Dr. Koeppen received grants from Friedreich's Ataxia Research Alliance , R01NS069454 from National Institutes of Health , and Neurochemical Research, Inc .
National Disease Research Interchange receives financial support from National Institutes of Health ( 2 U42 OD011158 ).
See page 130 for disclosure information.
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Copyright
© 2016 Published by Elsevier Inc.
