Researchers create CoQ9-deficient mutant mouse model with mitochondrial encephalomyopathy

Published on January 30, 2013 at 3:02 AM · No Comments

At three to six months of life, this genetic alteration in mice -similar to that occurred in human- causes a rapid degeneration in the lower limbs to death for cardiac arrest.

For the first time in the world, researchers at the Center for Biomedical Research of the University of Granada have created mice with a genetic mutation inducing a deficiency in the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. These mutant mice -which lack the Coq9 gene- will be "a valuable tool for the study and treatment of metabolic encephalopathies and neuromuscular diseases", the researchers state.

Coenzyme Q10 (CoQ10) is a molecule produced in body cells, which functions are crucial to cell metabolism. Their best-known function is their generating energy used by cells and their antioxidant activity. In human, defects in the biosynthetic route cause CoQ10 deficiency, resulting in a syndrome with very heterogeneous symptoms.

To better understand the pathological mechanisms of this disease and learn about the biosynthetic pathway of CoQ, the University of Granada researchers conducted a three-year study to generate mice with a mutation in a gene (Coq9) similar to that found in humans. This gene codifies a protein involved in CoQ biosynthesis.

Lower Limb Paralysis

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