Hair samples show potential as diagnostic tool for Smith-Lemli-Opitz Syndrome

A recent study presents an optimized and validated analytical method for the simultaneous determination of  7-dehydrocholesterol (7-DHC) and cholesterol (CHOL), 2 biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), using human hair. The findings highlight the potential of hair analysis as a non-invasive diagnostic approach for SLOS.

To investigate the feasibility of using hair for SLOS diagnosis, the researchers employed a series of extraction and analytical techniques. Hair samples were pulverized and extracted using micro-pulverized extraction in either an alkaline solution or n-hexane, in the presence of antioxidants (2,6-ditert-butyl-4-methylphenol and triphenylphosphine). The analytes, 7-DHC and CHOL, were then measured using gas chromatography-mass spectrometry (GC-MS) after microwave-assisted derivatization with N,O-Bis(trimethylsilyl)trifluoroacetamide.

The limits of determination for 7-DHC and CHOL were 10 ng/mg and 8 ng/mg, respectively. The linearity of the method was also found to be satisfactory, with a range of 50-4000 ng/mg for 7-DHC and 30-6000 ng/mg for CHOL. These ranges fully meet the requirements for SLOS diagnosis and related research.

To validate the method, real hair samples were collected from 14 healthy infants and two suspected SLOS patients. By applying the proposed analytical method, the researchers were able to confirm the feasibility of hair analysis as a diagnostic tool for SLOS.