Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure
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چکیده
منابع مشابه
Carnitine palmitoyltransferase II deficiency
The authors investigated 32 patients with the muscle form of CPT II deficiency. Total carnitine palmitoyltransferase enzyme system (CPT) activity was normal but abnormally inhibited by malonyl-CoA, palmitoyl-CoA, and the detergents Triton X and Tween 20. Mutation analysis identified three described mutations (S113L, P50H, and F448L) and two novel mutations (M214T and Y479F). Using modeling tech...
متن کاملComparison between the effects of L-Carnitine and Acetyl-L-Carnitine on myocardial infarction size in ischemic heart
Introduction: In the present study, potential differences between the effects of L-carnitine (LC) and acetyl-Lcarnitine (ALC) on ischemia/reperfusion (I/R)-induced myocardial infarction size were investigated. Methods: Male Wistar rats were randomly divided into five groups and then anesthetized by sodium pentobarbital. Hearts of the animals were removed and quickly mounted on a Langendorff ...
متن کاملFunctional and Structural Basis of Carnitine Palmitoyltransferase
Carnitine palmitoyltransferase 1A (CPT1A) is the key regulatory enzyme of hepatic long-chain fatty acid -oxidation. Human CPT1A deficiency is characterized by recurrent attacks of hypoketotic hypoglycemia. We presently analyzed at both the functional and structural levels five missense mutations identified in three CPT1A-deficient patients, namely A275T, A414V, Y498C, G709E, and G710E. Heterolo...
متن کاملCombined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.
The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son of the mother also had paroxysmal muscle cramps. The two studied cases showed normal findings fo...
متن کاملHeart Failure Carnitine Palmitoyltransferase-1b Deficiency Aggravates Pressure Overload–Induced Cardiac Hypertrophy Caused by Lipotoxicity
Received November 9, 2011; accepted August 17, 2012. From the Departments of Nutrition Sciences (L.H., T.K., Q.L., J.L., P.W., Y.Z., Q.Y., Y.D.) and Pharmacology (J.P.), University of Alabama at Birmingham, and Sanford-Burnham Medical Research Institute at Lake Nona, Orlando, FL (P.A.W.). The online-only Data Supplement is available with this article at http://circ.ahajournals.org/lookup/suppl/...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2000
ISSN: 0925-4439
DOI: 10.1016/s0925-4439(00)00061-2