Abstract：
:Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot (DBS) screening assay for this disorder on the basis of different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch DBS punch was extracted with methanol, internal standards were added, and after concentration the extract was injected into the tandem mass spectrometer using a 2 min flow injection analysis for which specific transitions were measured for cholestanetetrol glucuronide, taurochenodeoxycholic acid (t-CDCA), and taurotrihydroxycholestanoic acid (t-THCA). A proof-of-principle experiment was performed using 217 Guthrie cards from healthy term/preterm newborns, CTX patients, and Zellweger patients. Using two calculated biomarkers, tetrol:t-CDCA and t-THCA:tetrol, this straightforward method achieved an excellent separation between DBSs of CTX patients and those of controls, Zellweger patients, and newborns with cholestasis. The results of this small pilot study indicate that the tetrol:t-CDCA ratio is an excellent derived biomarker for CTX that has the potential to be used in neonatal screening programs.
journal_name
J Lipid Resjournal_title
Journal of lipid researchauthors
Vaz FM,Bootsma AH,Kulik W,Verrips A,Wevers RA,Schielen PC,DeBarber AE,Huidekoper HHdoi
10.1194/jlr.P075051subject
Has Abstractpub_date
2017-05-01 00:00:00pages
1002-1007issue
5eissn
0022-2275issn
1539-7262pii
jlr.P075051journal_volume
58pub_type
杂志文章abstract：:The melanocortin system is an important regulator of energy balance, and melanocortin 4 receptor (MC4R) deficiency is the most common monogenic cause of obesity. We investigated whether the relationship between melanocortin system activity and energy expenditure (EE) is mediated by brown adipose tissue (BAT) activity....
journal_title：Journal of lipid research
pub_type： 杂志文章
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journal_title：Journal of lipid research
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doi：10.1194/jlr.M082388
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journal_title：Journal of lipid research
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doi：10.1194/jlr.M067447
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journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R063313
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
abstract：:Lysophospholipid (LP) research has experienced a period of renaissance with the discovery of the lysophosphatidic acid (LPA) and sphingosine 1-phosphate (S1P) receptors in the late 1990s. Vertebrate LP receptors regulate embryogenesis, vascular development, neurogenesis, uterine development, oocyte survival, immune ce...
journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R800047-JLR200
更新日期：2009-04-01 00:00:00
abstract：:Cellular cholesterol is known to be under homeostatic control in nonsteroidogenic cells, and this intrigued us to understand how such control works in steroidogenic cells that additionally use cholesterol for steroid hormone synthesis. We employed primary culture of rat ovarian granulosa cells to study how steroidogen...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M030239
更新日期：2013-02-01 00:00:00
abstract：:A strategy has been developed for archaebacterial lipid analysis which provides three times the information to describe archaebacterial isolates and is compatible with simultaneous eubacterial/eukaryotic lipid analysis of environmental samples. Eubacterial and micro-eukaryotic biomass, community structure, and nutriti...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1991-04-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.P066902
更新日期：2016-12-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1983-07-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：:Bile acids are physiological detergents that generate bile flow and facilitate intestinal absorption and transport of lipids, nutrients, and vitamins. Bile acids also are signaling molecules and inflammatory agents that rapidly activate nuclear receptors and cell signaling pathways that regulate lipid, glucose, and en...
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pub_type： 杂志文章,评审
doi：10.1194/jlr.R900010-JLR200
更新日期：2009-10-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 临床试验,杂志文章
doi：10.1194/jlr.M900021-JLR200
更新日期：2009-09-01 00:00:00
abstract：:Diet-induced changes in high density lipoprotein (HDL) density and size were studied in patas monkeys. When the animals were switched from a moderate fat-low cholesterol diet to a high fat-high cholesterol (HFHC) diet, the plasma apoA-I levels increased initially in all of the animals. The apoA-I levels remained eleva...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1984-09-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R800089-JLR200
更新日期：2009-04-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-12-01 00:00:00
abstract：:The direct effect of apolipoprotein (apo) E on cholesteryl ester transfer protein (CETP) activity was studied using lipoproteins from a subject with apoE deficiency (Atherosclerosis. 1991. 88: 15-20) as a model system. The transfer of cholesteryl ester (CE) from discoidal bilayer particles (DBP) to very low density li...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1993-02-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1990-02-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1987-06-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：
更新日期：1997-02-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:Previous studies have shown that colony stimulating factor-1 (CSF-1) deficiency dramatically reduced atherogenesis in mice. In this report we investigate this mechanism and explore a therapeutic avenue based on inhibition of CSF-1 signaling. Lesions from macrophage colony stimulating factor-1 (Csf1)+/- mice showed inc...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：10.1194/jlr.M005215
更新日期：2010-07-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章,评审
doi：10.1194/jlr.R031534
更新日期：2014-01-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1966-09-01 00:00:00
abstract：:The inverse relationship between plasma levels of high density lipoprotein (HDL) and coronary heart disease rates has suggested that HDL might influence body stores of cholesterol. Therefore, we have investigated potential relationships between the parameters of body cholesterol metabolism and the plasma levels of HDL...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1985-09-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1985-02-01 00:00:00
abstract：:Oxidized forms of cholesterol (oxysterols) are present in atherosclerotic lesions and may play an active role in lesion development. For example, 7-ketocholesterol (7KC) inhibits cholesterol efflux from macrophage foam cells induced by apolipoprotein A-I (apoA-I). Such oxysterols may promote foam cell formation in ath...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
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journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
abstract：:We report a new genetic defect in the lecithin:cholesterol acyltransferase (LCAT) gene associated with classical clinical and biochemical features of fish eye disease. The 63-year-old Australian female proband also suffers from non-insulin-dependent (type II) diabetes mellitus. She presented with corneal opacities, ma...
journal_title：Journal of lipid research
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
