Unusual detection of lathosterol in amniotic fluids investigated for the determination of cholesterol and 7-dehydrocholesterol for suspected Smith-Lemli-Opitz Syndrome
Articolo
Data di Pubblicazione:
2014
Citazione:
Unusual detection of lathosterol in amniotic fluids investigated for the determination of cholesterol and 7-dehydrocholesterol for suspected Smith-Lemli-Opitz Syndrome / V. Gambaro, F. Farè, A. Barlocco, F. Maggi, G. Simoni, L. Dell’Acqua, C. Rusconi, G. Roda. - In: AMERICAN JOURNAL OF ANALYTICAL CHEMISTRY. - ISSN 2156-8251. - 5:4(2014 Mar), pp. 249-257. [10.4236/ajac.2014.54031]
Abstract:
The Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive disorder caused by a 7-dehydrocholesterol
reductase deficiency, which is characterized by abnormally elevated amniotic fluid
7-DHC (7-dehydrocholesterol) concentrations. A GC/FID (gas-chromatography with a flame ionization
detector) and GC/MS (gas-chromatography with a mass detector) method was optimized for
the detection of cholesterol and 7-DHC in amniotic fluids. The quantitative determination of cholesterol
in 39 control amniotic fluids evidenced that between the fourth and fifth month of pregnancy
the levels of this analyte are quite constant, the concentration of total and free cholesterol
being respectively 10.3 μg·mL−1 (SD = ±3.6) and 1.7 μg·mL−1 (SD = ±0.91), while the analysis of 60
amniotic fluids potentially related to SLOS, showed a higher variability of cholesterol levels.
Moreover, in 13 samples an analyte which did not correspond either to cholesterol or to 7-DHC
was detected. A GC/MS investigation allowed us to identify this compound as lathosterol, a precursor
of cholesterol in the biosynthetic pathway
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Lathosterol; Cholesterol; SLO Syndrome; Amniotic Fluid; GC/FID; GC/MS
Elenco autori:
V. Gambaro, F. Farè, A. Barlocco, F. Maggi, G. Simoni, L. Dell’Acqua, C. Rusconi, G. Roda
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