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Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

ABSTRACT: BACKGROUND:Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively. The age of the patients suspected of having these disorders is highly variable due to the very different phenotypes. The early diagnosis of these disorders is important because specific therapeutic treatment could prevent the disease progression. The biochemical diagnosis of these defects is generally performed analyzing the sterol profile. Since age-related levels of these sterols are lacking, this study aims to determine a preliminary comparison of plasma levels of cholestanol and lathosterol among Italian unaffected newborns, children and healthy adults. METHODS:The sterols were extracted from 130 plasma samples (24 newborns, 33 children and 73 adults) by a liquid-liquid separation method and quantified by gas chromatography coupled with a flame ionization detector. RESULTS:Cholesterol, cholestanol and lathosterol levels together with the cholestanol/cholesterol and lathosterol/cholesterol ratios are statistically different among the three groups. Cholesterol levels progressively increased from newborns to children and to adults, whereas cholestanol/cholesterol and cholestanol/lathosterol ratios progressively decreased from newborns to children and to adults. Lathosterol levels were higher in adults than in both newborns and children. In the total population a positive correlation was observed between cholesterol levels and both cholestanol (correlation coefficient?=?0.290, p?=?0.001) and lathosterol levels (correlation coefficient?=?0.353, p?

SUBMITTER: Gelzo M

PROVIDER: S-EPMC6937658 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

Gelzo Monica M Di Taranto Maria Donata MD Sica Concetta C Boscia Antonio A Papagni Francesco F Fortunato Giuliana G Corso Gaetano G Dello Russo Antonio A

Lipids in health and disease 20191230 1

<h4>Background</h4>Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively. The age of the patients suspected of having these disorders is highly variable due to the very different phenotypes. The early diagnosis of these disorders is important because specific therapeutic treatment could prevent the disease progression. The biochemical di ...[more]

PMID: 31888647

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Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

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Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.

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