University of Nebraska Medical Center, Omaha, NE
|Dr. William Rizzo|
UPDATE: SEPTEMBER 2007
Sjögren-Larsson syndrome (SLS) is a form of ichthyosis that is associated with neurologic symptoms of spasticity and mental retardation. The ichthyosis is present at birth and has a disturbing itchy characteristic. Like most other types of ichthyosis, no specific treatment is available. SLS is caused by mutations in a gene that normally makes an enzyme called fatty aldehyde dehydrogenase, which is necessary for lipid (fat) metabolism. This enzyme acts on several related lipids. We hypothesize that defective metabolism of one of these lipids is responsible for causing the ichthyosis, but it is not yet known which one. Recently, the research team headed by Dr. Judith Fischer in Paris has found that genetic defects in metabolism of a group of lipids called 12R-eicosanoids cause certain forms of ichthyosis. There is reason to suspect that fatty aldehyde dehydrogenase is also necessary for metabolizing 12-eicosanoid lipids. The research grant from FIRST has given us the resources to begin investigating whether defective metabolism of 12R-eicosanoids is responsible for the ichthyosis in SLS. Using a variety of biochemical and molecular techniques, our lab is studying the 12R-eicosanoid pathway in cultured skin cells (keratinocytes) from SLS patients. If metabolism of this lipid is found to be defective, our research would point to new therpeutic approaches for treating SLS and other forms of ichthyosis caused by abnormalities in the 12R-eicosanoid pathway.
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