Enzyme That Causes Genetic Diseases Investigated

Researchers from CIC bioGUNE's Structural Biology Unit and Columbia University (New York) have conducted a joint research project, published in the journal Structure, to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution (in the "natural" state). **Pyruvate carboxylase** is a metabolic enzyme that plays a fundamental role in the **metabolism of fatty acids** (the components of fats) and sugars. When its function is not adequately performed (for example, when mutations in the gene arise) diverse metabolic diseases of genetic origin are triggered, amongst them lactic acidaemia, hypoglycaemia, and psycho-motor retardation. At the same time, being at a metabolic crossroads, pyruvate carboxylase is potentially a target in obesity and diabetes treatments. more on "Sciencedaily":[ http://www.sciencedaily.com/releases/2009/08/090805075755.htm]

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