Previous studies have elaborated on the role of abnormal copper metabolism in various diseases such as Wilson’s disease , Menkes disease, and neurodegenerative disorders . 1, 2 However, in a recent study published in Human Molecular Genetics , scientists recently identified a novel form of copper metabolism disorder in identical twin boys caused due to missense mutations in the copper uptake protein (CTR1) gene resulting in CTR1 deficiency. The findings from this study highlight the key role of CTR1 and copper transport in neural development. In addition, these findings add to the current understanding of copper transport into and within the brain and may lead to advances in developing drugs for this disorder.
##References: ## Chen J, Jiang Y, Shi H, Peng Y, Fan X, Li C. The molecular mechanisms of copper metabolism and its roles in human diseases. Pflügers Archiv-European Journal…
