Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase

Journal of Internal Medicine

Volumn 261, Issue 5, 2007, Pages 504-510

  Hansson, M ^a   Olin, M ^a   Floren, C H ^b   Von Bahr, S ^a   Van't Hooft, F ^a   Meaney, S ^a   Eggertsen, G ^a   Bjorkhem I ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

Author keywords

Bile acids; Cholesterol; CYP27A1; Sterol 27 hydroxylase deficiency

Indexed keywords

26 HYDROXYCHOLESTEROL; STEROL 27 HYDROXYLASE;

ADULT; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL BLOOD LEVEL; DIAGNOSTIC TEST; FEMALE; GENE MUTATION; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; BASE SEQUENCE; CELLS, CULTURED; CHOLESTANOL; CYTOCHROME P-450 CYP27A1; EXONS; FEMALE; HUMANS; HYDROXYCHOLESTEROLS; MUTATION; PEDIGREE; RNA, MESSENGER; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 34247159060     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2007.01782.x     Document Type: Article

References (12)

1. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 2004; 27: 42-50.
2. Bjorkhem 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, eds. The Metabolic Bases of Inherited Diseases, 8th edn. New York, USA: McGraw Hill, 2001; 2961-88.
3. Bjorkhem I, Diczfalusy U, Lutjohann D. Removal of cholesterol from extrahepatic sources by oxidative mechanisms. Curr Opin Lipidol 1999; 10: 161-5.
4. 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: 38378-87.
5. von Bahr S, Movin T, Papadogiannakis N et al. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Art Thromb Vasc Biol 2002; 22: 1129-35.
6. 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 Inherit Metab Dis 2001; 24: 379-92.
7. Chen W, Kubota S, Teramoto T et al. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5′ splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Biochemistry 1998; 37: 4420-8.
8. Dzeletovic S, Breuer O, Lund E et al. Determination of cholesterol oxidation products in human plasma by isotope dilution-mass spectrometry. Anal Biochem 1995; 225: 73-80.
9. von Bahr S, Bjorkhem I, Van't Hooft F et al. Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. J Pediatr Gastroenterol Nutr 2005; 40: 481-6.
10. Rystedt E, Olin M, Seyama Y et al. Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters. J Intern Med 2002; 252: 259-64.
11. Koopman BJ, van der Molen JC, Wolthers BG et al. Determination of some hydroxycholesterols in human serum samples. J Chromatogr 1987; 416: 1-13.
12. Pandak WM, Ren S, Marques D et al. Transport of cholesterol into mitochondria is rate-limiting for bile acid synthesis via the alternative pathway in primary rat hepatocytes. J Biol Chem 2002; 277: 48158-64.