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New discovery may lead to targeted treatment for copper metabolism disorders

Individuals with defects in copper metabolism may soon have more targeted treatment options thanks to a discovery by a research team led by Dr. Vishal Gohil of Texas A&M AgriLife Research in College Station. The discovery is vital since copper is an essential trace metal necessary for survival. Copper is found in all body tissues and plays a critical role in a variety of physiological processes, including energy production, detoxification of harmful free radicals, connective tissue maturation, neurotransmitter biosynthesis and brain development. Copper metabolism deficiencies have been linked to genetic disorders such as Menkes disease, which affects infants and young children and results in deterioration of the nervous system and failure to fully develop. The research was led by Gohil, an associate professor in the department of biochemistry and biophysics at Texas A&M University in College Station, and his graduate student, Shivatheja Soma, who worked collaboratively with scientists at the Marine Biological Laboratory, the University of Maryland, the University of Saskatchewan in Canada and the Department of Drug Discovery and Biomedical Sciences in South Carolina. "Copper is an essential micronutrient required for mitochondrial energy production," Gohil said. "Inherited mutations that prevent copper delivery to a key mitochondrial enzyme perturb energy production and result in fatal mitochondrial disease. Currently, no therapy exists for these disorders."
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