76 IMPAIRED CHOLESTEROL SIDE CHAIN CLEAVAGE IN PATIENTS WITHOUT PEROXISOMES (ZELLWEGER SYNDROME)
نویسندگان
چکیده
منابع مشابه
Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency
Cholesterol side-chain cleavage enzyme (SCC) catalyzes the conversion of cholesterol to pregnenolone, the first step in the biosynthesis of all steroid hormones. It was once postulated that SCC deficiency would be lethal, but recent studies have established that SCC deficiency is an autosomal recessive disorder caused by inactivating mutations in the CYP11A1 gene. Clinical manifestations includ...
متن کاملInhibition of cholesterol side-chain cleavage by azacholesterols.
killed 18 hr after administration of the labeled drug. Analysis of the various brain areas showed that with the exception of the cerebellum, residual E3H]reserpine concentrations were markedly iowered in all brain areas (Table 2), indicating that mutual ~eserpine-tetrabe~~ne sites are w~d~pread in the brain. The other way of establishing the specificity of reserpine binding was by taking advant...
متن کاملLocalization of nervonic acid beta-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy.
Studies with purified subcellular organelles from rat liver indicate that nervonic acid (C24:1) is beta-oxidized preferentially in peroxisomes. Lack of effect by etomoxir, inhibitor of mitochondrial beta-oxidation, on beta-oxidation of lignoceric acid (C24:0), a peroxisomal function, and that of nervonic acid (24:1) compared to the inhibition of palmitic acid (16:0) oxidation, a mitochondrial f...
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We have shown that rat liver peroxisomes can chain-shorten prostaglandins to dinor- and tetranor-metabolites. In a recent in vivo study we could demonstrate that peroxisomes are of major importance for chain-shortening of prostaglandin F2 alpha in humans (1991, Diczfalusy et al. J. Clin. Invest. 88:978-984). This was shown by identifying the major urinary metabolites of radiolabeled prostagland...
متن کاملCholesterol Side-Chain Cleavage Gene Expression in Theca Cells: Augmented Transcriptional Regulation and mRNA Stability in Polycystic Ovary Syndrome
Hyperandrogenism is characteristic of women with polycystic ovary syndrome (PCOS). Ovarian theca cells isolated from PCOS follicles and maintained in long-term culture produce elevated levels of progestins and androgens compared to normal theca cells. Augmented steroid production in PCOS theca cells is associated with changes in the expression of genes for several steroidogenic enzymes, includi...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1986
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198610000-00130