PMID: 8950197Nov 15, 1996Paper

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

Biochimica Et Biophysica Acta
W ChenY Seyama

Abstract

Cerebrotendinous xanthomatosis (CTX), an autosomal recessive lipid-storage hereditary disorder, is caused by mutations in the sterol 27-hydroxylase gene (CYP 27). A 24-year-old female Japanese CTX patient and her parents were studied for a CYP 27 mutation. Multiple xanthomas were the main complaint of the patient and plasma cholestanol level was markedly elevated. Sterol analysis of a xanthoma biopsy confirmed cholesterol and cholestanol deposition, and the cholestanol accounted for 8.1% of the total sterols. Sterol 27-hydroxylase activity in fibroblasts derived from the patient was undetectable, while the activities in fibroblasts from her mother and father were 54% and 41% of the normal level, respectively. Direct sequence analysis showed a missense mutation of A for G substitution in the CYP 27 gene at codon 362 (CGT 362Arg to CAT 362His) with a homozygous pattern in the patient, and a heterozygous pattern in the parents. The mutation, which eliminates a normal HgaI endonuclease site at position 1195 of the cDNA and is located at the adrenodoxin binding region of the gene, is most probably responsible for the decreased sterol 27-hydroxylase activity in this Japanese CTX family. The combined data strongly support that the pri...Continue Reading

References

Aug 15, 1991·Clinica Chimica Acta; International Journal of Clinical Chemistry·J FujiyamaM Osame
Jul 2, 1973·European Journal of Biochemistry·I Björkhem, J Gustafsson
Dec 1, 1969·Archives of Neurology·M Philippart, L Van Bogaert
Jul 1, 1968·Archives of Neurology·J H MenkesP D Swanson
Dec 27, 1984·The New England Journal of Medicine·V M BerginerS Shefer
Feb 5, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·T BeppuT Yamakawa
Jan 1, 1993·Metabolism: Clinical and Experimental·V M BerginerD Gazit
Mar 1, 1993·Journal of the Neurological Sciences·A FedericoR Nuti

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Citations

Apr 5, 2016·Experimental Eye Research·Stephen Barnes, Roy A Quinlan
Oct 31, 2003·Journal of Medicinal Food·Yousuke Seyama
Apr 25, 2000·Brain : a Journal of Neurology·A VerripsL P van den Heuvel
Mar 6, 1999·Biochemical and Biophysical Research Communications·K InoueY Seyama

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