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Carrier detection for Sjögren-Larsson syndrome
T L Kelson1, D A Craft, W B Rizzo
1Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298.
Journal of Inherited Metabolic Disease
|January 1, 1992
Summary
Carrier detection for Sjögren-Larsson syndrome (SLS) is possible by measuring fatty aldehyde dehydrogenase (FALDH) activity in skin fibroblasts. This enzyme assay effectively distinguishes SLS carriers from healthy individuals.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder.
- SLS is characterized by reduced activity of the fatty alcohol: NAD+ oxidoreductase complex (FAO).
- Patients with SLS exhibit a specific deficiency in the fatty aldehyde dehydrogenase (FALDH) component of FAO.
Purpose of the Study:
- To investigate the feasibility of carrier detection for SLS.
- To evaluate the utility of measuring FAO and FALDH activities for identifying SLS carriers.
Main Methods:
- Cultured skin fibroblasts were obtained from normal controls, obligate SLS heterozygotes, and SLS homozygotes.
- FAO and FALDH activities were measured using 18-carbon substrates (octadecanol and octadecanal).
Main Results:
- Fibroblast FALDH activity was more effective than FAO in discriminating SLS heterozygotes from normal controls.
- SLS heterozygotes showed FALDH activity at approximately 60% of mean normal activity.
- No SLS heterozygotes had FAO or FALDH activity within the range observed in SLS homozygotes.
Conclusions:
- Measurement of FAO and FALDH activities in cultured skin fibroblasts is a useful method for SLS carrier detection.
- FALDH activity assay provides a reliable means to identify individuals carrying the SLS gene.