Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: Effects of dietary cholesterol

Journal of Lipid Research

Volumn 47, Issue 12, 2006, Pages 2789-2798

  Pappu, Anuradha S ^a   Connor, William E ^a   Merkens, Louise S ^b   Jordan, Julia M ^a   Penfield, Jennifer A ^b   Illingworth, D Roger ^a   Steiner, Robert D ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

24 hour urine; 7 dehydrocholesterol; Farnesyl pyrophosphate; Mevalonate; Sterols

Indexed keywords

DOLICHOL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; ISOPRENOID; LIPID; MEVALONIC ACID; UBIQUINONE;

ADOLESCENT; ADULT; ARTICLE; CHOLESTEROL INTAKE; CLINICAL ARTICLE; CONTROLLED STUDY; DIETARY INTAKE; FEMALE; HUMAN; INFANT; LIPID BLOOD LEVEL; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SMITH LEMLI OPITZ SYNDROME; URINALYSIS; URINARY EXCRETION; URINE LEVEL;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHOLESTEROL, DIETARY; DOLICHOL; FEMALE; HUMANS; INFANT; MALE; MEVALONIC ACID; MODELS, BIOLOGICAL; SMITH-LEMLI-OPITZ SYNDROME; TERPENES; UBIQUINONE;

EID: 33845583505     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.M600295-JLR200     Document Type: Article

References (51)

1. Battaile, K. P., and R. D. Steiner. 2000. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Mol. Genet. Metab. 71: 154-162.
2. Kelley, R. I. 1997. A new face for an old syndrome. Am. J. Med Genet. 68: 251-256.
3. Porter, F. D. 2000. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Mol. Genet. Metab. 71: 163-174.
4. Herman, G. E. 2003. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum. Mol. Genet. 12 (Spec. No. 1): R75-R88.
5. Illingworth, D. R., A. S. Pappu, and R. E. Gregg. 1989. Increased urinary mevalonic acid excretion in patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia. Atherosclerosis. 76: 21-27.
6. Parker, T. S., D. J. McNamara, C. D. Brown, R. Kolb, E. H. Ahrens, Jr., A. W. Alberts, J. Tobert, J. Chen, and P. J. De Schepper. 1984. Plasma mevalonate as a measure of cholesterol synthesis in man. J. Clin. Invest. 74: 795-804.
7. Pappu, A. S., R. D. Steiner, S. L. Connor, D. P. Flavell, D. S. Lin, L. Hatcher, D. R. Illingworth, and W. E. Connor. 2002. Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. J. Lipid Res. 43: 1661-1669.
8. Landau, B. R., and H. Brunengraber. 1985. Shunt pathway of mevalonate metabolism. Methods Enzymol. 110: 100-114.
9. Kelley, R. I., and L. Kratz. 1995. 3-Methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr. Res. 37: 671-674.
10. Dallner, G., and P. J. Sindelar. 2000. Regulation of ubiquinone metabolism. Free Radic. Biol. Med. 29: 285-294.
11. Turunen, M., J. Olsson, and G. Dallner. 2004. Metabolism and function of coenzyme Q. Biochim. Biophys. Acta. 1660: 171-199.
12. Krag, S. S. 1998. The importance of being dolichol. Biochem. Biophys. Res. Commun. 243: 1-5.
13. Pappu, A. S., and D. R. Illingworth. 1994. Diurnal variations in the plasma concentrations of mevalonic acid in patients with abetalipoproteinaemia. Eur. J. Clin. Invest. 24: 698-702.
14. Popjak, G., G. Boehm, T. S. Parker, J. Edmond, P. A. Edwards, and A. M. Fogelman. 1979. Determination of mevalonate in blood plasma in man and rat. Mevalonate "tolerance" tests in man. J. Lipid Res. 20: 716-728.
15. Pappu, A. S., D. R. Illingworth, and S. Bacon. 1989. Reduction in plasma low-density lipoprotein cholesterol and urinary mevalonic acid by lovastatin in patients with heterozygous familial hypercholesterolemia. Metabolism. 38: 542-549.
16. Kazunaga, H., H. Suwaki, C. Fuke, K. Ameno, and I. Ijiri. 1994. A study of urinary dolichols as a biological marker for alcohol abuse. Report I. Quantitation of urinary dolichols by high performance liquid chromatography after BondElutC18 (500 mg) cartridge extraction. Arukoru Kenkyuto Yakubutsu Ison. 29: 161-167.
17. Turpeinen, U. 1986. Liquid-chromatographic determination of dolichols in urine. Clin. Chem. 32: 2026-2029.
18. Okamoto, T., K. Fukui, M. Nakamoto, T. Kishi, T. Okishio, T. Yamagami, N. Kanamori, H. Kishi, and E. Hiraoka. 1985. High-performance liquid chromatography of coenzyme Q-related compounds and its application to biological materials. J. Chromatogr. 342: 35-38.
19. Steiner, R. D., L. M. Linck, D. P. Flavell, D. S. Lin, and W. E. Connor. 2000. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. J. Lipid Res. 41: 1437-1447.
20. Miles, M. V., P. S. Horn, P. H. Tang, J. A. Morrison, L. Miles, T. DeGrauw, and A. J. Pesce. 2004. Age-related changes in plasma coenzyme Q10 concentrations and redox state in apparently healthy children and adults. Clin. Chim. Acta. 347: 139-144.
21. Pallottini, V., M. Marino, G. Cavallini, E. Bergamini, and A. Trentalance. 2003. Age-related changes of isoprenoid biosynthesis in rat liver and brain. Biogerontology. 4: 371-378.
22. Keller, R. K., and S. W. Nellis. 1986. Quantitation of dolichyl phosphate and dolichol in major organs of the rat as a function of age. Lipids. 21: 353-355.
23. Elmberger, G., and P. Engfeldt. 1985. Distribution of dolichol in human and rabbit blood. Acta Chem. Scand. B. 39: 323-325.
24. Nowaczyk, M. J., S. A. Farrell, W. L. Sirkin, L. Velsher, P. A. Krakowiak, J. S. Waye, and F. D. Porter. 2001. Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype. Am. J. Med. Genet. 103: 75-80.
25. Sheff, J. S. 2001. Smith-Lemli-Opitz syndrome: a genetic disorder with pedal manifestations. J. Am. Podiatr. Med. Assoc. 91: 149-152.
26. Krakowiak, P. A., N. A. Nwokoro, C. A. Wassif, K. P. Battaile, M. J. Nowaczyk, W. E. Connor, C. Maslen, R. D. Steiner, and F. D. Porter. 2000. Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. Am. J. Med. Genet. 94: 214-227.
27. Yu, H., and S. B. Patel. 2005. Recent insights into the Smith-Lemli-Opitz syndrome. Clin. Genet. 68: 383-391.
28. Sikora, D. M., K. Pettit-Kekel, J. Penfield, L. S. Merkens, and R. D. Steiner. 2006. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am. J. Med. Genet. A. 140A(14): 1511-1518.
29. Koide, T., T. Hayata, and K. W. Cho. 2006. Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. Development. 133: 2395-2405.
30. Jeong, J., J. Mao, T. Tenzen, A. H. Kottmann, and A. P. McMahon. 2004. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev. 18: 937-951.
31. Nakanishi, M., J. L. Goldstein, and M. S. Brown. 1988. Multivalent control of 3-hydroxy-3-methylglutaryl coenzyme A reductase. Mevalonate-derived product inhibits translation of mRNA and accelerates degradation of enzyme. J. Biol. Chem. 263: 8929-8937.
32. Dallner, G., and P. J. Sindelar. 2000. Regulation of ubiquinone metabolism. Free Radic. Biol. Med. 29: 285-294.
33. Baldwin, C. M., R. R. Bootzin, D. C. Schwenke, and S. F. Quan. 2005. Antioxidant nutrient intake and supplements as potential moderators of cognitive decline and cardiovascular disease in obstructive sleep apnea. Sleep Med. Rev. 9: 459-476.
34. Hasegawa, G., Y. Yamamoto, J. G. Zhi, Y. Tanino, M. Yamasaki, M. Yano, T. Nakajima, M. Fukui, T. Yoshikawa, and N. Nakamura. 2005. Daily profile of plasma %CoQ10 level, a biomarker of oxidative stress, in patients with diabetes manifesting postprandial hyperglycaemia. Acta Diabetol. 42: 179-181.
35. Sohal, R. S., S. Kamzalov, N. Sumien, M. Ferguson, I. Rebrin, K. R. Heinrich, and M. J. Forster. 2006. Effect of coenzyme Q(10) intake on endogenous coenzyme Qcontent, mitochondrial electron transport chain, antioxidative defenses, and life span of mice. Free Radic. Biol. Med. 40: 480-487.
36. Miles, L., M. V. Miles, P. H. Tang, P. S. Horn, J. G. Quinlan, B. Wong, A. Wenisch, and K. E. Bove. 2005. Ubiquinol: a potential biomarker for tissue energy requirements and oxidative stress. Clin. Chim. Acta. 360: 87-96.
37. Grunler, J., and G. Dallner. 2004. Investigation of regulatory mechanisms in coenzyme Q metabolism. Methods Enzymol. 378: 3-17.
38. Kabakoff, B. D., and A. A. Kandutsch. 1987. Depression of hepatic dolichol levels by cholesterol feeding. J. Lipid Res. 28: 305-310.
39. Humaloja, K., R. P. Roine, K. Salmela, E. Halmesmaki, K. Jokelainen, and M. Salaspuro. 1991. Serum dolichols in different clinical conditions. Scand. J. Clin. Lab. Invest. 51: 705-709.
40. Karila, T., R. Laaksonen, K. Jokelainen, J. J. Himberg, and T. Seppala. 1996. The effects of anabolic androgenic steroids on serum ubiquinone and dolichol levels among steroid abusers. Metabolism. 45: 844-847.
41. Kurup, R. K., and P. A. Kurup. 2003. Isoprenoid pathway-related membrane dysfunction in neuropsychiatric disorders. Int. J. Neurosci. 113: 1579-1591.
42. Soderberg, M., C. Edlund, I. Alafuzoff, K. Kristensson, and G. Dallner. 1992. Lipid composition in different regions of the brain in Alzheimer's disease/senile dementia of Alzheimer's type. J. Neurochem. 59: 1646-1653.
43. Liao, J. K. 2002. Isoprenoids as mediators of the biological effects of statins. J. Clin. Invest. 110: 285-288.
44. Keller, R. K., T. P. Arnold, and S. J. Fliesler. 2004. Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome. J. Lipid Res. 45: 347-355.
45. Tulenko, T. N., K. Boeze-Battaglia, R. P. Mason, G. S. Tint, R. D. Steiner, W. E. Connor, and E. F. Labelle. 2006. A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J. Lipid Res. 47: 134-143.
46. Chan, T. S., J. X. Wilson, and P. J. O'Brien. 2004. Coenzyme Q cytoprotective mechanisms. Methods Enzymol. 382: 89-104.
47. Javitt, N. B. 2004. Oxysteroids: a new class of steroids with autocrine and paracrine functions. Trends Endocrinol. Metab. 15: 393-397.
48. Bjorkhem, I., L. Starck, U. Andersson, D. Lutjohann, S. von Bahr, I. Pikuleva, A. Babiker, and U. Diczfalusy. 2001. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. J. Lipid Res. 42: 366-371.
49. Thelin, A., M. Runquist, J. Ericsson, E. Swiezewska, and G. Dallner. 1994. Age-dependent changes in rat liver prenyltransferases. Mech. Ageing Dev. 76: 165-176.
50. Grunler, J., J. Ericsson, and G. Dallner. 1994. Branch-point reactions in the biosynthesis of cholesterol, dolichol, ubiquinone and prenylated proteins. Biochim. Biophys. Acta. 1212: 259-277.
51. Ericsson, J., A. Thelin, T. Chojnacki, and G. Dallner. 1992. Substrate specificity of cis-prenyltransferase in rat liver microsomes. J. Biol. Chem. 267: 19730-19735.