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7. The pathogenesis of Friedreich cardiomyopathy: myocarditis
Published online by Cambridge University Press: 06 August 2015
Abstract
Frataxin deficiency causes the complex neurological and cardiac phenotype of Friedreich ataxia (FRDA). The most common cause of death is cardiomyopathy. The results presented here are based on a systematic study of fixed and frozen archival heart specimens and include measurement of cardiomyocyte hypertrophy, frataxin assay, X-ray fluorescence (XRF) of iron (Fe) and zinc (Zn), inductively-coupled plasma optical emission spectrometry of these metals in digests of left ventricular wall (LVW), right ventricular wall (RVW), and ventricular septum (VS), Fe histochemistry, and immunohistochemistry and double-label immunofluorescence microscopy of cytosolic and mitochondrial ferritins, and of the inflammatory markers CD68 and hepcidin. Frataxin levels in LVW were extremely low at less than 15 ng/g wet weight (normal: 214.1±81.2). On cross-sections, cardiomyocytes were significantly larger than normal with case means ranging from 635-1856 μm2 for LVW and 483-1150 μm2 for VS (normal LVW, 140-460; normal VS, 237-613). Fe accumulations varied from minute granules to coarse aggregates in fibers undergoing phagocytosis. Measured by XRF, regional Fe concentration in LVW and VS were significantly increased while Zn remained normal. Total heart Fe and Zn did not differ from normal levels. Cytosolic and mitochondrial ferritins exhibited extensive co-localization, representing translational and transcriptional responses to Fe, respectively. All cases met the criteria of myocarditis. Inflammatory cells contained CD68 and ferritin, and most expressed the Fe-regulatory hormone hepcidin. In conclusion, inflammation plays a major role in the pathogenesis of FA cardiomyopathy, and hepcidin-induced retention of Fe in macrophages contributes to cardiac damage in FRDA.
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- Copyright © The Canadian Journal of Neurological Sciences Inc. 2015