Abstract
Barth syndrome (BTHS) is a rare X-linked disorder that is characterized by mitochondrial abnormalities, infantile or childhood onset of cardioskeletal myopathy, and high mortality rates. It is currently unknown if BTHS related mitochondrial dysfunction results in substrate metabolism abnormalities and thereby contributes to cardioskeletal myopathy in patients with BTHS. Adolescents and young adults with BTHS (n = 5, 20 ± 4 yrs) and age and activity matched healthy controls (n = 5, 18 ± 4 yrs) underwent an hyperinsulinemic-euglycemic clamp procedure with stable isotopically labeled tracers for measurement of lipolysis, fatty acid oxidation, glucose disposal, and whole-body proteolysis rates; dual energy x-ray absorptiometry for measurement of body composition and 2-D and strain echocardiography for measurement of left ventricular function. Participants with BTHS had lower fat-free mass (FFM) (BTHS: 31.4 ± 6.9 vs. 46.7 ± 5.3 kg, p < 0.005), lower systolic function (strain, BTHS: -15.2 ± 2.4 vs. -19.0 ± 2.4 %, p < 0.05), greater insulin-stimulated glucose disposal rate per kg FFM (BTHS: 96.5 ± 16.3 vs. 67.4 ± 17.6 μmol/kgFFM/min, p < 0.05), lower basal (BTHS: 4.6 ± 2.7 vs. 11.9 ± 4.4 μmol/kgFM/min, p < 0.05) and hyperinsulinemic (...Continue Reading
References
Dec 1, 1978·Metabolism: Clinical and Experimental·T W BurnsG A Robinson
Apr 1, 1991·Metabolism: Clinical and Experimental·M D Jensen, V J Heiling
Dec 1, 1983·Journal of the Neurological Sciences·P G BarthM A Sobotka-Plojhar
Aug 1, 1983·Journal of Applied Physiology: Respiratory, Environmental and Exercise Physiology·K N Frayn
Jun 1, 1997·The Journal of Clinical Investigation·P BougnèresD Ricquier
May 9, 2000·Progress in Lipid Research·M SchlameM L Greenberg
Dec 16, 2000·Diabetes·S EnokssonS Caprio
Dec 19, 2000·Biochemical and Biophysical Research Communications·P VrekenP G Barth
May 11, 2001·Journal of Cardiovascular Pharmacology·M Esler, D Kaye
Nov 10, 2001·American Journal of Physiology. Endocrinology and Metabolism·B MittendorferS Klein
Jan 5, 2002·Journal of Inherited Metabolic Disease·S R BergmannD P Kelly
Jun 7, 2002·The Journal of Clinical Endocrinology and Metabolism·Yoshinori MiyazakiRalph A DeFronzo
Jul 11, 2002·Journal of the American College of Cardiology·Víctor G Dávila-RománRobert J Gropler
Jul 12, 2002·Annals of Neurology·Michael SchlameThomas J J Blanck
Aug 7, 2002·International Journal of Cardiology·Stefan D Anker, Rakesh Sharma
Jan 4, 2003·Hypertension·Lisa de las FuentesVíctor G Dávila-Román
Apr 3, 2003·The Journal of Clinical Investigation·Søren NielsenMichael D Jensen
Jul 3, 2003·American Journal of Physiology. Endocrinology and Metabolism·Kevin E YarasheskiClay F Semenkovich
Sep 5, 2003·European Journal of Applied Physiology·Simon M GunnJohn Cormack
Dec 10, 2003·Journal of the American College of Cardiology·Michael SchlameThomas J J Blanck
Apr 20, 2004·Obesity Research·Tianguang LeiWen Guo
Apr 21, 2004·American Journal of Medical Genetics. Part a·Peter G BarthRonald J A Wanders
Apr 5, 2005·Laboratory Investigation; a Journal of Technical Methods and Pathology·Yang XuMichael Schlame
Dec 27, 2005·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Roberto M LangUNKNOWN European Association of Echocardiography
May 11, 2006·Journal of Lipid Research·Christina Koutsari, Michael D Jensen
Jun 23, 2006·Journal of Internal Medicine·H NørrelundN Møller
Jul 19, 2006·Pediatrics·Carolyn T SpencerBarry J Byrne
Jul 21, 2006·Proceedings of the National Academy of Sciences of the United States of America·Yang XuMichael Schlame
Jul 1, 2008·Diabetologia·P Schrauwen, M K C Hesselink
Aug 30, 2011·American Journal of Physiology. Heart and Circulatory Physiology·Carolyn T SpencerW Todd Cade
Citations
May 10, 2013·Orphanet Journal of Rare Diseases·Charlotte RigaudJean Donadieu
Feb 16, 2013·Journal of Lipid Research·Michael A KiebishRichard W Gross
Feb 11, 2016·Diabetes·W Todd CadeAlison G Cahill
Aug 15, 2015·Clinical Nutrition ESPEN·W Todd CadeAlison G Cahill
Jan 18, 2017·Lipids·Edgard M MejiaGrant M Hatch
Feb 16, 2017·Physiological Reports·Adil BashirW Todd Cade
Mar 23, 2018·The Journal of Biological Chemistry·Edgard M MejiaGrant M Hatch
Aug 3, 2018·Human Gene Therapy·Silveli Suzuki-HatanoChristina A Pacak
Jan 12, 2019·Molecular Nutrition & Food Research·Wenguang ChangJianxun Wang
Mar 30, 2019·Journal of Inherited Metabolic Disease·William Todd CadeDominic N Reeds
Jun 8, 2018·Balkan Journal of Medical Genetics : BJMG·Finsterer J, Stollberger C
Dec 25, 2019·Diabetologia·Adam J BittelW Todd Cade
Oct 2, 2020·Heart Failure Reviews·Hani N Sabbah
Jul 16, 2020·The Journal of Biological Chemistry·Catherine H LeAdam J Chicco
Nov 11, 2019·Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology·William Todd CadeLinda R Peterson
Dec 22, 2019·Metabolites·Erica M FaticaYana Sandlers
Dec 31, 2019·Oxidative Medicine and Cellular Longevity·Gergő SzűcsTamás Csont
Jul 25, 2019·International Journal of Molecular Sciences·Silveli Suzuki-HatanoChristina A Pacak
Nov 14, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mauro SerricchioPeter Bütikofer
Jan 9, 2021·Molecular and Cellular Biochemistry·Hana M Zegallai, Grant M Hatch
Nov 15, 2020·Life·Christina Wasmus, Jan Dudek
Oct 13, 2020·Medicine and Science in Sports and Exercise·Adam J BittelWilliam Todd Cade
May 22, 2021·Endocrinology·Laura K ColeGrant M Hatch
Oct 10, 2021·Journal of Inherited Metabolic Disease·Jiajia Ji, Miriam L Greenberg
Oct 30, 2021·Journal of Inherited Metabolic Disease·Reid ThompsonHilary J Vernon