The pathogenesis of cardiomyopathy in Friedreich ataxia

PloS One
Arnulf H KoeppenJoseph E Mazurkiewicz

Abstract

Friedreich ataxia (FA) is an autosomal recessive disease with a complex neurological phenotype, but the most common cause of death is heart failure. This study presents a systematic analysis of 15 fixed and 13 frozen archival autopsy tissues of FA hearts and 10 normal controls (8 frozen) by measurement of cardiomyocyte hypertrophy; tissue frataxin assay; X-ray fluorescence (XRF) of iron (Fe) and zinc (Zn) in polyethylene glycol-embedded samples of left and right ventricular walls (LVW, RVW) and ventricular septum (VS); metal quantification in bulk digests by inductively-coupled plasma optical emission spectrometry (ICP-OES); Fe histochemistry; and immunohistochemistry and immunofluorescence of cytosolic and mitochondrial ferritins and of the inflammatory markers CD68 and hepcidin. FA cardiomyocytes were significantly larger than normal and surrounded by fibrotic endomysium. Frataxin in LVW was reduced to less than 15 ng/g wet weight (normal 235.4 ± 75.1 ng/g). All sections displayed characteristic Fe-reactive inclusions in cardiomyocytes, and XRF confirmed significant regional Fe accumulation in LVW and VS. In contrast, ICP-OES analysis of bulk extracts revealed normal total Fe levels in LVW, RVW, and VS. Cardiac Zn remained no...Continue Reading

References

Dec 1, 1989·Journal of Neurology, Neurosurgery, and Psychiatry·G De MicheleG Campanella
Dec 1, 1987·Journal of the American College of Cardiology·L J OlsonB J Gersh
Nov 1, 1980·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·J B LamarcheB Lemieux
Apr 3, 1999·Circulation Research·P H Sugden
Oct 21, 1999·The New England Journal of Medicine·J J Hunter, K R Chien
May 30, 2001·Forensic Science International : Synergy·G L de la GrandmaisonM Durigon
Jan 28, 2003·Blood Cells, Molecules & Diseases·Jim DrysdaleSonia Levi
Jun 18, 2004·Journal of Molecular Biology·Béatrice Langlois d'EstaintotPaolo Arosio
Apr 13, 2006·The Journal of Biological Chemistry·Ivano CondòRoberto Testi
Dec 1, 2006·The Cerebellum·Susan MichaelArnulf H Koeppen
Aug 28, 2007·Experimental Biology and Medicine·Jerome L Sullivan
Oct 1, 1946·The Journal of Pathology and Bacteriology·D S RUSSELL
Jun 29, 2010·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Matthew SchragWolff Kirsch
Aug 31, 2010·Biochimica Et Biophysica Acta·Xiaolan Zhang, Brad H Rovin
Feb 15, 2011·Journal of the Neurological Sciences·Arnulf H Koeppen
Sep 2, 2011·The Journal of Clinical Investigation·Simon A JonesStefan Rose-John
Mar 3, 2012·Arteriosclerosis, Thrombosis, and Vascular Biology·Jing Jing LiYun Zhang
Sep 25, 2012·The American Journal of Cardiology·R Liane RamirezArnulf H Koeppen
Jul 16, 2013·The Biochemical Journal·Darius J R LaneDes R Richardson
Dec 11, 2013·Cellular and Molecular Life Sciences : CMLS·Marten SziborThomas Braun

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Citations

Oct 10, 2015·Journal of the American College of Cardiology·R Liane RamirezArnulf H Koeppen
May 26, 2015·International Journal of Cardiology·Frank WeidemannStefan Störk
Mar 29, 2016·International Journal of Cardiology·Duncan E CrombieAlice Pébay
Apr 2, 2016·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Petr DusekJan Aaseth
May 25, 2016·Acta Neuropathologica Communications·Kevin C KempAlastair Wilkins
Apr 30, 2016·Journal of the American College of Cardiology·Mario J Garcia
Apr 14, 2017·Cerebellum & Ataxias·Katrin Bürk
Mar 3, 2017·Pflügers Archiv : European journal of physiology·Manfred NairzGuenter Weiss
Jul 21, 2017·Expert Review of Neurotherapeutics·Cassandra StrawserDavid R Lynch
Jan 13, 2016·BMC Neurology·Julianna E ShinnickDavid R Lynch
Aug 15, 2017·Medicine, Science, and the Law·Roger W Byard, John D Gilbert
Jan 10, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Giulia AlfediAlessandra Rufini
Feb 9, 2018·Journal of Translational Medicine·Driton Vela
Dec 28, 2018·Circulation·Ivana ZlatanovaJean-Sébastien Silvestre
Oct 24, 2017·Laboratory Investigation; a Journal of Technical Methods and Pathology·Driton Vela
Dec 5, 2019·Journal of Neuromuscular Diseases·Sophie MavrogeniGeorge P Chrousos
Jan 17, 2019·Heart·Elena Giulia MilanoChiara Bucciarelli-Ducci
Jun 3, 2020·Journal of Clinical Medicine·Lise LegrandFrancoise Pousset
Jul 28, 2019·Cerebellum & Ataxias·Humberto SkottMartin Paucar
Jul 30, 2020·Antioxidants·Laura R RodríguezJuan Antonio Navarro Langa
Aug 10, 2017·Journal of Neuropathology and Experimental Neurology·Alyssa B BeckerArnulf H Koeppen
Jul 11, 2018·International Journal of Molecular Sciences·Véronique MonnierJuan Antonio Navarro
Mar 6, 2019·Frontiers in Neuroscience·José Vicente LlorensMaría Dolores Moltó
Sep 11, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Antonella BizzocaGianfranco Gennarini
Jun 1, 2018·BioMed Research International·P Calap-QuintanaJ V Llorens
Feb 2, 2019·World Journal of Cardiology·Emily HansonVeena Raizada
May 3, 2019·Oxidative Medicine and Cellular Longevity·Alessandra BolottaCinzia Zucchini
Jul 15, 2020·International Journal of Molecular Sciences·Taejoon KimIm-Soon Lee
Jun 6, 2020·Cell Death & Disease·Jesse D SloneTaosheng Huang
Sep 11, 2020·Expert Review of Neurotherapeutics·Theresa A ZesiewiczJoshua Vega
Jun 8, 2018·Frontiers in Physiology·Bethan J CritchleyMichal Mielcarek
Jan 25, 2020·Cell Death & Disease·Riccardo TurchiKatia Aquilano
Nov 20, 2020·Molecular Therapy. Methods & Clinical Development·Brahim BelbellaaHélène Puccio
Dec 3, 2020·Cells·Maddalena Di SanzoMaria Concetta Faniello
Nov 1, 2020·Biomolecules·Riccardo TurchiKatia Aquilano
Jun 3, 2021·International Journal of Molecular Sciences·Cristina MazzaccaraGiulia Frisso
Jul 9, 2021·Journal of Multidisciplinary Healthcare·David R LynchKimberly Y Lin
Jul 27, 2021·Movement Disorders Clinical Practice·Malco RossiMarcelo Merello
Aug 26, 2017·Aging and Disease·Guofen GaoYan-Zhong Chang

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Methods Mentioned

BETA
X-ray
enzyme-linked immunosorbent assay
ELISA
biopsies
biopsy

Software Mentioned

Zeiss AxioVision

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