Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

PloS One
Aurelie Nguyen Dinh CatFrederic Jaisser

Abstract

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studie...Continue Reading

References

Mar 18, 1997·Proceedings of the National Academy of Sciences of the United States of America·T OhshimaA B Kulkarni
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Oct 18, 2002·American Journal of Physiology. Heart and Circulatory Physiology·X GuoG S Kassab
Jan 22, 2003·Journal of the American College of Cardiology·Iacopo OlivottoFranco Cecchi
Jan 23, 2003·Journal of the American Society of Nephrology : JASN·Daniel T EitzmanJames A Shayman
Aug 24, 2004·Current Medicinal Chemistry. Cardiovascular and Hematological Agents·F BarbeyM Burnier
Sep 15, 2004·Cardiovascular Research·Mark W M SchellingsStephane Heymans
Feb 17, 2005·Pediatrics·Markus RiesRaphael Schiffmann
Mar 8, 2005·International Journal of Cardiology·Nikos T KourisDimitris K Babalis
Jul 22, 2005·Journal of the American Society of Nephrology : JASN·Liming ShuJames A Shayman
Sep 17, 2005·Glycobiology·Maurice BicharaNicolette Farman
Sep 20, 2005·The American Journal of Cardiology·Jaymin S ShahPerry M Elliott
Oct 8, 2005·Respiration; International Review of Thoracic Diseases·Gregory BiererZab Mosenifar
Apr 25, 2007·Heart, Lung & Circulation·Norman Sadick, Liza Thomas
May 8, 2007·European Heart Journal·Ales LinhartUNKNOWN European FOS Investigators
May 23, 2007·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Yannis Sainte-MarieFrederic Jaisser
Oct 2, 2007·Nucleic Acids Research·Ann-Marie MallonJohn M Hancock
Nov 23, 2007·Kidney International·F C FervenzaD J Lager
Mar 28, 2008·Acta Paediatrica·Christoph KampmannMichael Beck
Apr 26, 2008·Journal of Korean Medical Science·Jin-Ho ChoiHan-Wook Yoo
May 10, 2008·The American Journal of Pathology·Cristina ChimentiJolanda van der Velden
Jun 21, 2008·Clinical and Experimental Pharmacology & Physiology·James L ParkJames A Shayman
Jul 4, 2008·Pediatric Research·Robert J HopkinWilliam R Wilcox
Aug 12, 2008·International Journal of Cardiology·Rocio ToroJose L Zamorano
Feb 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRobert J Desnick
May 29, 2009·Journal of Medical Genetics·A MehtaUNKNOWN FOS Investigators
Jul 25, 2009·Journal of the American Society of Nephrology : JASN·Liming ShuJames A Shayman
Sep 12, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephen WaldekPhilip Lee
Oct 24, 2009·European Heart Journal·Frédéric BarbeyAles Linhart
Feb 23, 2010·Journal of the American College of Cardiology·Chia-Ti TsaiJiunn-Lee Lin
Sep 4, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Christoph WannerDavid G Warnock
Nov 26, 2010·Annual Review of Medicine·Frank WeidemannChristoph Wanner
Apr 12, 2011·The Canadian Journal of Cardiology·Paula A RozenfeldGustavo J Rinaldi
Aug 2, 2011·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·David G WarnockUNKNOWN Fabry Registry

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Citations

Mar 13, 2014·Biochimica Et Biophysica Acta·Hila ZigdonAnthony H Futerman
Jun 7, 2014·European Heart Journal Cardiovascular Imaging·Rosalinda MadonnaNino Cocco
Jul 6, 2014·Cell and Tissue Research·Stefan PorubskyHermann-Josef Gröne
Feb 6, 2017·Human Molecular Genetics·Jin-Song ShenTeodoro Bottiglieri
Jul 7, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·James J MillerNancy M Dahms
Sep 10, 2013·Biochemistry. Biokhimii︠a︡·G M PastoresB-J Zeng
Sep 19, 2019·Biochimica Et Biophysica Acta. General Subjects·James J MillerNancy M Dahms

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Auto EMKA
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