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Title:	Differential HMG‐CoA lyase expression in human tissues provides clues about 3‐hydroxy‐3‐methylglutaric aciduria
Author:	Puisac, Beatriz; Arnedo, María; Casale, César H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antònia; Pérez-Cerdá, Celia; Casals i Farré, Núria; Hegardt, Fausto G.; Pié, Juan
Notes:	3‐Hydroxy‐3‐methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures and lethargy, accompanied by metabolic acidosis and hypoketotic hypoglycaemia. Such organs as the liver, brain, pancreas, and heart can also be involved. However, the pathophysiology of this disease is only partially understood. We measured mRNA levels, protein expression and enzyme activity of human HMG‐CoA lyase from liver, kidney, pancreas, testis, heart, skeletal muscle, and brain. Surprisingly, the pancreas is, after the liver, the tissue with most HL activity. However, in heart and adult brain, HL activity was not detected in the mitochondrial fraction. These findings contribute to our understanding of the enzyme function and the consequences of its deficiency and suggest the need for assessment of pancreatic damage in these patients.
Subject(s):	-Enzims -Malalties -Fisiopatologia -RNA -Enzimas -Enfermedades -Fisiopatología -ARN -Enzymes -Diseases -Pathophysiology -RNA -61
Rights:	© 2010 The Author(s). This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. https://creativecommons.org/licenses/by-nc/4.0/
Document type:	Article Article - Accepted version
Published by:	Wiley
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