Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.

Abstract

BACKGROUND:

Sjögren-Larsson syndrome is a metabolic disorder characterized by accumulation of long-chain fatty alcohols in plasma of patients due to mutations in the ALDH3A2 gene, that codes for a microsomal fatty aldehyde dehydrogenase (FALDH). Recent studies have demonstrated that FALDH is involved in the last step of the conversion of 22-hydroxy-C22:0 into the dicarboxylic acid of C22:0 (C22:0-DCA).

METHODS:

FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD(+). Electrospray ionization mass spectrometry (ESI-MS) was used to quantify the amounts of C22:0-DCA produced.

RESULTS:

All SLS patients were deficient in C22:0-DCA productions with activities ranging from 3.2-26.3% of mean control.

CONCLUSIONS:

The new assay described in this paper has substantial advantages over previous assays, and allows for the easy, reliable and rapid diagnosis of SLS.

• Authors: Robert-Jan Sanders, Rob Ofman, Conny Dekker, Stephan Kemp, Ronald J A Wanders
• Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 877 Issue 4 Pg. 451-5 (Feb 01 2009) ISSN: 1570-0232 [Print] Netherlands
• PMID: 19124283 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Validation Study)

Chemical References

• Aldehyde Oxidoreductases
• long-chain-aldehyde dehydrogenase

Topics

• Aldehyde Oxidoreductases (genetics)
• Humans
• Sjogren-Larsson Syndrome (diagnosis, enzymology, genetics)
• Spectrometry, Mass, Electrospray Ionization (methods)