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Human Molecular Genetics, Vol 7, 2057-2062, Copyright © 1998 by Oxford University Press

ARTICLES

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice

SP Wang, JD Marth, LL Oligny, M Vachon, MF Robert, L Ashmarina and GA Mitchell
Service de Genetique Medicale and Departement de Pathologie, Hopital Sainte-Justine, 3175 Cote Ste-Catherine, Montreal H3T 1C5, Quebec, Canada.

3-Hydroxy-3-methylglutaryl-CoA lyase (HL, EC 4.1.3.4) catalyses the last step of ketogenesis from leucine and fatty acids. HL deficiency in humans is one of the many inborn errors of CoA ester metabolism. By gene targeting, we created a strain of HL-deficient mice. Heterozygous HL-deficient mice are clinically normal and fibroblasts from homozygous HL-deficient embryos grow normally despite absence of HL activity. In contrast, homozygous HL-deficient embryos die at approximately 11.5 days post-coitum. Histologically, HL-deficient embryos show marked vacuolization, particularly in liver. Ultrastructural studies of hepatocytes obtained before death from HL-deficient embryos reveal abnormal dilated mitochondria. HL-deficient mice are the first mammalian example of a disease primarily affecting CoA ester metabolism with abnormal prenatal development.
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