Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2008
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
СтатьяПоддержка исследования: вне правительства СШАВалидационное исследованиеНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Sanders Robert-Jan, Ofman Rob, Dekker Conny, Kemp Stephan, Wanders Ronald J A
Аннотация
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.
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.