Citations to this article

A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAIN
T. Setoguchi, … , G. S. Tint, E. H. Mosbach
T. Setoguchi, … , G. S. Tint, E. H. Mosbach
Published May 1, 1974
Citation Information: J Clin Invest. 1974;53(5):1393-1401. https://doi.org/10.1172/JCI107688.
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Research Article

A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAIN

Abstract

Bile acid production in cerebrotendinous xanthomatosis (CTX) is subnormal, yet the activity of cholesterol 7α-hydroxylase, the rate-determining enzyme of bile acid synthesis, is elevated. To explain this discrepancy, bile acid precursors were sought in bile and feces of three CTX subjects. Over 10% of the total sterols excreted in bile and feces consisted of compounds more polar than cholesterol. Chromatographic analysis of the polar fractions in conjunction with gasliquid chromatography (GLC)-mass spectrometry indicated two major constituents, 5β-cholestane-3α,7α,12α,25-tetrol and 5β-cholestane-3α,7α,12α,24ξ,25-pentol. After i.v. injection of [4-14C]cholesterol both bile alcohols were radioactive proving that they were derived from cholesterol. The accumulation of alcohols hydroxylated at C-25 and C-24,25 suggests that decreased bile acid synthesis in CTX results from impaired oxidation of the cholesterol side chain. This finding and the virtual absence of intermediates hydroxylated at C-26 indicate that current views of the major pathway of bile acid synthesis may require revision.

Authors

T. Setoguchi, Gerald Salen, G. S. Tint, E. H. Mosbach

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Liver in the cerebro-hepato-renal syndrome: Defective bile acid synthesis and abnormal mitochondria
RK Mathis, JB Watkins, PS Leeuween, IT Lott 		Gastroenterology 1980
Biliary bile acids, bile alcohols, and sterols of Alligator mississippiensis
GS Tint, B Dayal, AK Batta, S Shefer, T Joanen, L McNease, G Salen 		Journal of lipid research 1980
Occurrence of bile alcohols in the bile of a patient with cholestasis
A Kibe, S Nakai, T Kuramoto, T Hoshita 		Journal of lipid research 1980
Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis
T Hoshita, M Yasuhara, M Une, A Kibe, E Itoga, S Kito, T Kuramoto 		Journal of lipid research 1980
Cholic Acid Biosynthesis THE ENZYMATIC DEFECT IN CEREBROTENDINOUS XANTHOMATOSIS
G Salen, S Shefer, FW Cheng, B Dayal, AK Batta, GS Tint 		Journal of Clinical Investigation 1979
Formation of cholic acid via 3α,7α,12α-trihydroxy-5β-cholestan-26-oic acid in the dog
LE Kajer, GC Williams, P Szczepanik, S Silvis, RF Hanson 		Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism 1979
Defects of bile acid synthesis in Zellweger's syndrome
RF Hanson, P Szczepanik-VanLeeuwen, GC Williams, G Grabowski, HL Sharp 		Science 1979
Genetic Diseases of the Skin
VM der Kaloustian, AK Kurban 		1979
Configurational assignment of 5β-cholestane-3α, 7α, 12α, 23, 25-pentol excreted by patients with cerebrotendinous xanthomatosis (a circular dichroism study)
B Dayal, GS Tint, S Shefer, G Salen 		Steroids 1979
Metabolism of potential precursors of chenodeoxycholic acid in cerebrotendinous xanthomatosis (CTX)
G Salen, S Shefer, EH Mosbach, S Hauser, BI Cohen, G Nicolau 		Journal of lipid research 1979
Hepatic cholesterol metabolism in normo- and hyperlipidemic patients with cholesterol gallstones
J Ahlberg, B Angelin, I Björkhem, K Einarsson, B Leijd 		Journal of lipid research 1979
Effect of taurocholate on the conversion of 3α, 7α, 12α-Trihydroxy-5β-Cholestan-26-OIC acid into cholic acid
RF Hanson, GC Williams 		Steroids 1978
Risk Factors for the Development of Cholelithiasis in Man
LJ Bennion, SM Grundy 		New England Journal of Medicine 1978
Preparation and characterization of (24R and 24S)-5μ-cholestane-3α, 7α,24,25-tetrols and (24R and 24S)-5β-cholestane-3α, 24, 25-triols
AK Batta, B Dayal, GS Tint, S Shefer, V Toome, G Salen, EH Mosbach 		Steroids 1978
Intrahepatic pigment and crystal forms in patients with cerebrotendinous xanthomatosis (CTX)
G Salen, FG Zaki, S Sabesin, D Boehme, S Shefer, EH Mosbach 		Gastroenterology 1978
Gas-liquid chromatography-mass spectrometry of trimethylsilyl ethers of bile alcohols
GS Tint, B Dayal, AK Batta, S Shefer, FW Cheng, G Salen, EH Mosbach 		Journal of lipid research 1978
Chemical synthesis of 5beta-cholestane-3alpha, 7alpha, 24, 25-tetrol and its metabolism in the perfused rabbit liver
T Kuramoto, BI Cohen, MA Rothschild, DA Donor, EH Mosbach 		The Journal of biological chemistry 1978
Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study
B Dayal, G Salen, GS Tint, V Toome, S Shefer, EH Mosbach 		Journal of lipid research 1978
THE ULTRASTRUCTURE OF LENS AND IRIS IN CEREBROTENDINOUS XANTHOMATOSIS
JH Seland, JE Slagsvold 		Acta Ophthalmologica 1977
Evidence for the early reduction of the 24,25 double bond in the conversion of lanosterol to cholesterol in cerebrotendinous xanthomatosis
GS Tint, G Salen 		Metabolism 1977
Metabolism of bile alcohols in the perfused rabbit liver — C26 bile alcohols
BI Cohen, T Kuramoto, MA Rothschild, R Graham, EH Mosbach 		Steroids 1977
Synthesis and Enterohepatic Circulation of Bile Salts
RF Hanson, JM Pries 		Gastroenterology 1977
Cholesterol 7α-hydroxylase
NB Myant, KA Mitropoulos 		Journal of lipid research 1977
Inborn Errors of Bile Acid Synthesis
G Salen, S Shefer, F Zaki, E Mosbach 		1977
Cholic acid biosynthesis: conversion of 5β-cholestane-3α,7α,12α,25-tetrol into 5β-cholestane-3α,7α, 12α,24β,25-pentol by human and rat liver microsomes
FW Cheng, S Shefer, B Dayal, GS Tint, T Setoguchi, G Salen, EH Mosbach 		Journal of lipid research 1977
Metabolism of 3α, 7α, 12α-trihydroxy-5β-cholestan-26-oic acid in normal subjects with an intact enterohepatic circulation
RF Hanson, GC Williams 		Journal of lipid research 1977
Bile acid synthesis in man. II. Determination of 7 α-hydroxycholesterol, (22R)-22-hydroxycholesterol, and 26-hydroxycholesterol in human meconium
U Lavy, S Burstein, M Gut, NB Javitt 		Journal of lipid research 1977
A 25-hydroxylation pathway of cholic acid biosynthesis in man and rat
S Shefer, FW Cheng, B Dayal, S Hauser, GS Tint, G Salen, EH Mosbach 		Journal of Clinical Investigation 1976
Effects of clofibrate on some microsomal hydroxylations involved in the formation and metabolism of bile acids in rat liver
BO Angelin, I Björkhem, K Einarsson 		Biochemical Journal 1976
Gallstone disease pathogenesis and management
EA Shaffer, DM Small 		Current Problems in Surgery 1976
Isolation, quantitation, and identification of bile alcohols
T Kuramoto, BI Cohen, EH Mosbach 		Analytical Biochemistry 1976
Cerebrotendinous cholestanolosis in relation to other cerebral xanthomatoses
JG Jong, CM Gent, JW Delleman 		Clinical Neurology and Neurosurgery 1976
New bile alcohols—synthesis of (22R)- and (22S)-5β-cholestane-3α,7α,12α,22,25-pentols 1,2
K Kenji, K Taiju, H Takahiko 		Steroids 1976
Identification of (23S)-5β-cholestane-3α,7α,12α,23,25-pentol in cerebrotendinous xanthomatosis1,2
T Hoshita, M Yasuhara, K Kihira, T Kuramoto 		Steroids 1976
Quantitative aspects of the conversion of 5 beta-cholestane intermediates to bile acids in man
CC Schwartz, BI Cohen, ZR Vlahcevic, DH Gregory, LG Halloran, T Kuramoto, EH Mosbach, L Swell 		The Journal of biological chemistry 1976
Metabolism of bile alcohols in the perfused rabbit liver
BI Cohen, T Kuramoto, MA Rothschild, EH Mosbach 		The Journal of biological chemistry 1976
Side chain hydroxylations in biosynthesis of cholic acid. 25- and 26-Hydroxylation of 5beta-cholestane-3alpha, 7alpha, 12alpha-triol by reconstituted systems from rat liver microsomes
I Björkhem, H Danielsson, K Wikvall 		The Journal of biological chemistry 1976
Synthesis of 5β-cholestane-3α, 7α, 12α, 25-tetrol and 5β-cholestane-3α, 7α, 12α, 24ξ, 25-pentol
B Dayal, S Shefer, GS Tint, G Salen, EH Mosbach 		Journal of lipid research 1976
Biosynthesis of bile acids in man. Hydroxylation of the C27-steroid side chain
I Björkhem, J Gustafsson, G Johansson, B Persson 		Journal of Clinical Investigation 1975
Bile alcohol metabolism in man. Conversion of 5beta-cholestane-3alpha, 7alpha,12alpha, 25-tetrol to cholic acid
G Salen, S Shefer, T Setoguchi, EH Mosbach 		Journal of Clinical Investigation 1975
The metabolism of 3alpha, 7alpha, 12alpha-trihydorxy-5beta-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic bile duct anomalies. An apparent inborn error of cholic acid synthesis
RF Hanson, JN Isenberg, GC Williams, D Hachey, P Szczepanik, PD Klein, HL Sharp 		Journal of Clinical Investigation 1975
CEREBROTENDINOUS XANTHOMATOSIS (CHOLESTANOLOSIS)
A Schreiner, G Hopen, S Skrede 		Acta Neurologica Scandinavica 1975
New bile alcohols — synthesis of 5β-cholestane-3α, 7α, 25-triol and 5β-cholestane-3α, 7α, 25-24(14C)-triol1
BI Cohen, GS Tint, T Kuramoto, EH Mosbach 		Steroids 1975
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous Xanthomatosis
G Salen, TW Meriwether, G Nicolau 		Biochemical Medicine 1975
Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis: characterization of 5β-cholestane-3α, 7α, 12α, 24xi, 25-pentol and 5β-cholestane-3α, 7α, 12α, 23xi, 25-pentol
S Shefer, B Dayal, GS Tint, G Salen, EH Mosbach 		Journal of lipid research 1975
Bile acid biosynthesis: Pathways and regulation
EH Mosbach, G Salen 		The American Journal of Digestive Diseases 1974

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