Copper (Cu) is a redox-active micronutrient that plays an important role in many physiological processes, as a cofactor for several enzymes involved in energy production, antioxidant processes, and homeostasis of other metals. We acquire Cu from our daily diet and Cu absorption occurs in the gastrointestinal lining of the small intestine. In our body, Cu balance is maintained by Cu chaperones and transporter proteins.
I am interested in understanding Cu dysregulation and how this can lead to the development of various pathologies. Most of the diseases and mutations causing Cu dysbalance result in growth failure, neurological problems, and deficient immune response, among other systemic manifestations. Cu deficiency or accumulation due to mutations in two major Cu transporters, ATP7A and ATP7B, result in two diseases, Menkes and Wilson’s disease, respectively. These diseases impact individuals from birth. However, there is increasing evidence of the contributions of Cu to many other syndromes. The oxidative properties of Cu may also contribute to oxidative stress due to the accumulation of free radicals. This is identified as a prominent factor for neurotoxicity, and different neurodegenerative disorders such as Alzheimer’s, Parkinson, Huntington and amyotrophic lateral sclerosis. Moreover, Cu has been proposed to contribute to the pathology observed in the neurodegenerative effects and brain damage caused by the prion protein. In addition, other rare diseases where Cu seems to be an important contributor were identified in children decades ago; some examples are the Indian childhood disease and Tyrolean infantile cirrhosis. Cu is also an important component of innate immunity in humans and animals as an anti-microbial defense, for which microbes have developed mechanisms to counteract the toxic effects of Cu.