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Sjögren-Larsson Syndrome: Genetic Studies And Biochemical Characterization Of Human Fatty Aldehyde Dehydrogenase, Todd L. Kelson
Sjögren-Larsson Syndrome: Genetic Studies And Biochemical Characterization Of Human Fatty Aldehyde Dehydrogenase, Todd L. Kelson
Theses and Dissertations
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder due to deficiency of the fatty aldehyde dehydrogenase (FALDH) component of fatty alcohol:NAD+ oxidoreductase (FAO). We investigated the enzymatic defect in SLS in order to elucidate the role of FALDH in fatty aldehyde and fatty alcohol metabolism.
Genetic studies were performed to investigate carrier detection for SLS. Cultured skin fibroblasts from normal controls, SLS obligate heterozygotes, and SLS homozygotes were assayed for FAO and FALDH activities using 18-carbon substrates. In SLS homozygotes, mean FAO and FALDH activities were 8% of normal, and there was no overlap between the homozygote and heterozygote …