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Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.
Open accessAbstract
Oxidation of side chain of 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol was studied in a patient with cerebrotendinous xanthomatosis (CTX) and in control subjects, using various subcellular fractions of liver homogenate and a method based on isotope dilution-mass spectrometry. In the control, 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol was converted into 5 beta-cholestane-3 alpha,7 alpha,12 alpha,26-tetrol and 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid by the mitochondrial fraction, and into 5 beta-cholestane-3 alpha,7 alpha,12 alpha,-25-tetrol by the microsomal fraction. In the CTX patient, liver mitochondria were completely devoid of 26-hydroxylase activity. The same mitochondrial fraction catalyzed 25-hydroxylation of vitamin D3. The microsomal fraction of liver of the subject with CTX contained more than 50-fold the normal amount of 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol. The basic metabolid defect in CTX appears to be a lack of the mitochondrial 26-hydroxylase. The excretion in the bile of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol and 5 beta-cholestane-3 alpha,7 alpha,12 alpha,24 alpha,25-pentol observed in CTX patients may be secondary to the accumulation of the major substrate for the 26-hydroxylase, i. e., 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol, and exposure of this substrate to the normally less active microsomal 25-and 24-hydroxylases. It is concluded that the major pathway in the biosynthesis of cholic acid in human liver involves a mitochondrial C27-steroid 26-hydroxylation.
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Citations
Cited by
Russell, D. W., & Setchell, K. D. R. (1992) · Biochemistry · doi:10.1021/bi00135a001 · Cited by 819
Björkhem, I., Andersson, O., Diczfalusy, U., Sevastik, B., Xiu, R. J., Duan, C., & Lund, E. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.18.8592 · Cited by 320
Self-citationOxysterol biosynthetic enzymes
Russell, D. (2000) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(00)00142-6 · Cited by 319
Metabolic aspects of peroxisomal β-oxidation
Osmundsen, H., Bremer, J., & Pedersen, J. I. (1991) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(91)90089-z · Cited by 278
Björkhem, I., & Hansson, M. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.02.140 · Cited by 92
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Metadata
- Authors
- Oftebro, H., Björkhem, I., Skrede, S., Schreiner, A., & Pederson, J. I.
- Venue
- Journal of Clinical Investigation
- Published
- 1980-06-01
- Volume
- 65
- Issue
- 6
- Pages
- 1418-1430
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1996336846
- Cited by
- 230
- References
- 0
- FWCI
- 7.65
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Oftebro, H., Björkhem, I., Skrede, S., Schreiner, A., & Pederson, J. I. (1980). Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. Journal of Clinical Investigation. https://doi.org/10.1172/jci109806
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