Reports outline genetics & genomics study findings from Weizmann Institute of Science, Department of Biological Chemistry

New investigation results, "Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options," are detailed in a study published in FEBS Letters. "Although diseases in the pathway of sphingolipid degradation have been known for decades, the first disease in the biosynthetic pathway was only reported in 2004, when a form of infantile-onset symptomatic epilepsy was described as a genetic defect in GM3 synthase. Presumably other diseases in the sphingolipid biosynthetic pathway will yet be discovered, although many may remain undetected due to their putative lethal phenotypes," researchers in Rehovot, Israel report.

"In contrast, diseases are...

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