Cerebrotendinous xanthomatosis

Current Opinion in Lipidology

Volumn 24, Issue 4, 2013, Pages 283-287

  Björkhem, Ingemar ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

27 hydroxycholesterol; cerebrotendinous xanthomatosis; Cholestanol; CYP27A1; Xanthomas

Indexed keywords

26 HYDROXYCHOLESTEROL; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTANOL;

AMYOTROPHIC LATERAL SCLEROSIS; BLOOD BRAIN BARRIER; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTANETRIOL 26 MONOOXYGENASE GENE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; PRIORITY JOURNAL; REVIEW; WHITE MATTER LESION;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN; CHOLESTANETRIOL 26-MONOOXYGENASE; CHOLESTANOL; CHOLESTEROL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIPID METABOLISM; TENDONS; XANTHOMATOSIS, CEREBROTENDINOUS;

MUS;

EID: 84880626520     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0b013e328362df13     Document Type: Review

References (25)

1. Björkhem I, Boberg KM, Leitersdorf E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, Sly WS, Vallee D, editors. The metabolic Bases of Inherited Diseases, 8th edn. New York: USA McGraw Hill; 2001. pp. 2961-2988.
2. Björkhem I, Diczfalusy U, Lutjohann D. Removal of cholesterol from extrahepatic sources by oxidative mechanisms. Curr Opin Lipidol 1999; 10:161-165.
3. Fu X, Menke JG, Chen Y, et al. 27-Hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells. J Biol Chem 2001; 276:3837-38387.
4. von Bahr S, Movin T, Papadogiannakis N, et al. Mechnism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Art Thromb Vasc Biol 2002; 22:1129-1135.
5. Mogashadian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgropunds. Clin Invest Med 2004; 27:42-50.
6. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006; 27:143-149.
7. Lee MH, Hazard S, Carpten JD, et al. Fine-mappig, mutation analyses and structural mapping of cerebrotendinous xanthomatosis in US pedigrees. J Lipid Res 2001; 42:159-169.
8. Sugama S, Kimura A, Chen W, et al. Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27). J Inher Metab Dis 2001; 24:379-392.
9. Hansson M, Olin M, Floren CH, et al. Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. J Int Med 2007; 261:504-510.
10. Båvner A, Shafaati M, Hansson M, et al. On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. J Lipid Res 2010; 51:2722-2730.
11. Panzenboeck U, Andersson U, Hansson M, et al. On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xantomatosis. J Lipid Res 2007; 48:1167-1174.
12. Honda A, Salen G, Matsuzaki V, et al. Side chain hydroxylation in bile acid biosynthesis catalyzed by CYP3A is markedly upregulated in cyp27-/- mice but not in cerebrotendinous xanthomatosis. J Biol Chem 2001; 276:34579-34585.
13. Björkhem I, Buchmann MS, Skrede S. On the structural specificity in the regulation of hydroxyglutaryl-CoA reductase and the cholesterol 7a-hydroxylase in rats. EffCholestanol Feeding Biochim Biophys Acta 1985; 835:18-22.
14. Lund E, Björkhem I. Downregulation of HMG CoA reductase in mice by dietary cholesterol. Importance of the delta-5-double bond and evidence that oxidation at C-3, C-5, C-6 or C-7 is not involved. Biochemistry 1994; 33:291-297.
15. Meng Z, Liu N, Fu X, et al. Insufficient bile acid signalling impairs liver repair in cyp27-/- mice. J Hepatol 2011; 55:885-895.
16. Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Semin Liver Dis 2007; 27:282-294.
17. Björkhem I. Are side-chain oxidized oxysterols regulators also in vivo? J Lipid Res 2009; 50 (Suppl):S213-S218.
18. Ali Z, Heverin M, Olin M, et al. On the regulatory role of side-chain hydroxylated oxysterols in the brain. Lessons from CYP27A1 transgenic and cyp27-/- mice. J Lipid Res 2013; 54:1033-1043.
19. Mignarri A, Dotti MT, DelPuppo M, et al. Cerebrotendinous Xanthomatosis wih progressive cerebellar vacuolation. Neuroradiologi 2012; 54:649-651.
20. Androdidas A, Vukusic S, Gignoux L, et al. Leukodystrophy with a cerebellar aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xantomatosis. J Neurology 2012; 259:364-366.
21. Inoue K, Kuboa S, Seyama Y. Cholestanol induce apoptosis of cerebellar neuronal cells. Biochem Biophs Res Commun 1999; 256:198-203.
22. Diekstra FP, Saris CG, van Rheenen W, et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. Plos One 2012; 7:e35333; doi: 10137.
23. Chio A, Calvo A, Ilardi A, et al. Lower serum lipid levels are related to respiratory impairment in patients with ALS. Neurology 2009; 73:1681-1685.
24. Dupuis L, Corcia P, Fergani A, et al. Dyslipidemia is a protective factor in amyotrophic lateral sclerosis. Neurology 2008; 70:1004-1009.
25. Björkhem I, Leoni V, Cedazo-Minguez A, et al. Oxysterols and neurodegeneration. Mol Aspects Med 2009; 30:171-179.