Skip to main content
Skip to navigation

News


Copper and Menkes: Biochemistry Team Discovers Trigger to an Often Fatal Disease

March 27th, 2013

Children affected with Menkes disease suffer from the inability to regulate copper intake through food consumption. MU Biochemistry researchers found young laboratory mice missing the ATP7A gene suffer characteristics similar to children with Menkes disease. The team found early intervention with a single dose of copper can negate the effects of the gene loss in mice and restore normal growth and life expectancy.  These findings may greatly influence future treatment of Menkes disease. This research aligns with the One Health/One Medicine initiative.  

Story by CAFNRnews

A team of Biochemistry researchers at the University of Missouri has published the first direct evidence that the gene ATP7A is essential for the dietary absorption of the nutrient copper.  This research explains why children with Menkes disease, who are born lacking this gene, develop a severe and often fatal copper deficiency.

The research shows that the acquisition of dietary copper is impaired when the ATP7A gene is absent in the intestinal cells of young laboratory mice, resulting in an overall copper deficiency that mimics symptoms of Menkes disease in children. Symptoms include seizures, movement disorder, stunted growth and early mortality.

The results could provide new insight into the human version of the disease.  The incidence of Menkes disease in humans is estimated to be 1 in 100,000 newborns.  Since newborn screening for this disorder is not routine, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease may not be treated early enough to make a significant difference.

Children with Menkes disease usually die in the first decade of life. The mice at the University of Missouri in which loss of the ATP7A gene is restricted to specific tissues will provide an important model for discovering new treatments for patients this disorder. More…