Reduction in cholesterol synthesis in response to serum starvation in lymphoblasts of a patient with Barth syndrome.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire
Kristin Hauff, Grant M Hatch

Abstract

Barth syndrome is a rare X-linked disease in which mild hypocholesterolemia is observed in some patients. We investigated cholesterol biosynthesis in lymphoblasts from a normal and age-matched Barth syndrome patient. Control and Barth syndrome (DeltaTAZ1) lymphoblasts were incubated in the presence or absence of serum to induce cholesterol synthesis and hydroxymethylglutaryl-coenzyme A reductase activity and expression, and cholesterol biosynthesis from radioactive precursors was determined. Cholesterol biosynthesis from [2-14C]pyruvate was stimulated 2-fold in control cells, but was unchanged in DeltaTAZ1 lymphoblasts, and from [1-14C]acetate was stimulated 77% in control but only 26% in DeltaTAZ1 lymphoblasts upon serum removal, indicating a lower ability of DeltaTAZ1 cells to upregulate cholesterol biosynthesis. The reason was an inability to increase hydroxymethylglutaryl-coenzyme A reductase activity, which was already near maximum in DeltaTAZ1 lymphoblasts, in response to serum removal, compared with control cells. The reduced ability to increase hydroxymethylglutaryl-coenzyme A reductase enzyme activity in DeltaTAZ1 lymphoblasts was due to a decrease in hydroxymethylglutaryl-coenzyme A reductase messenger RNA. Although t...Continue Reading

References

Jun 1, 1991·The Journal of Pediatrics·K M GibsonP Schrynemackers-Pitance
Jan 1, 1989·Advances in Enzyme Regulation·A Endo, K Hasumi
Feb 1, 1981·American Journal of Epidemiology·G S BerensonL S Webber
Feb 1, 1993·American Journal of Medical Genetics·L C AdèsD O Sillence
Apr 1, 1996·Nature Genetics·S BioneD Toniolo
Nov 5, 1997·American Journal of Human Genetics·J JohnstonR Proujansky
Oct 23, 1997·American Journal of Human Genetics·P D'AdamoD Toniolo
Jul 17, 1999·Journal of Inherited Metabolic Disease·P G BarthF Baas
Sep 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·M S Brown, J L Goldstein
Nov 22, 2000·Journal of Biochemical and Biophysical Methods·T D Schmittgen, B A Zakrajsek
Aug 15, 2001·American Journal of Medical Genetics·M M Mazzocco, R I Kelley
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Jul 18, 2002·Clinical Genetics·H R Waterham
Jul 16, 2003·Cellular and Molecular Life Sciences : CMLS·F W Pfrieger
Aug 16, 2003·The Journal of Biological Chemistry·Ken OhashiShun Ishibashi
Apr 21, 2004·American Journal of Medical Genetics. Part a·Peter G BarthRonald J A Wanders
Mar 29, 2005·American Journal of Medical Genetics. Part a·Iris L Gonzalez
Jul 9, 2005·Critical Care Medicine·Clementien L VermontJan A Hazelzet
Jan 31, 2006·Progress in Lipid Research·Kristin D Hauff, Grant M Hatch
Jul 11, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Kristian TvetenMari Ann Kulseth
Jul 19, 2006·Pediatrics·Carolyn T SpencerBarry J Byrne
Sep 16, 2006·FEBS Letters·Michael Schlame, Mindong Ren
Mar 14, 2007·Journal of Developmental and Behavioral Pediatrics : JDBP·Michèle M M MazzoccoRichard I Kelly
Jun 15, 2007·Current Opinion in Clinical Nutrition and Metabolic Care·Philip C CalderPhilip Newsholme

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Citations

Feb 13, 2013·Orphanet Journal of Rare Diseases·Sarah L N ClarkeColin G Steward
Apr 23, 2014·Molecular Genetics and Metabolism·Hilary J VernonRichard I Kelley
Jan 9, 2021·Molecular and Cellular Biochemistry·Hana M Zegallai, Grant M Hatch

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