Downes and Colleagues Identify New Animal Model to Better Understand a Human Metabolic Disorder

Biology professor Gerald Downes, Molecular and Cellular Biology Graduate Student Timo Friedrich, and colleagues have developed a mutant zebrafish to study Maple Syrup Urine Disease (MSUD). It is an inherited metabolic disorder that causes affected individuals to smell like maple syrup. Untreated, it can result in mental retardation, profound neurological damage, seizures, coma and death through mechanisms that are not well understood. This new model is described in the March issue of the journal Disease Models and Mechanism.

MSUD causes disease by disrupting the proper metabolic breakdown of three amino acids: Isoleucine, leucine and valine, found in protein-rich foods such as eggs, meat and milk. These amino acids and their by-products accumulate to toxic levels in the body, with devastating effects on the brain and nervous system. This new animal model can be a useful tool to reveal how MSUD leads to nervous system damage and develop new therapeutics. Professor Downes has been invited to describe their study at the MSUD symposium, which brings together MSUD affected individuals, clinician, and scientist, which will be held from June 28-30, 2012 in Philadelphia PA.

This paper can be accessed here.

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