Metals, Metalloproteins and Disease
Wesleyan Blog
Wilson’s Disease (WD) is a liver disease caused by mutations in a protein responsible for copper excretion. That protein, ATPase7B (ATP7B), is a pump that helps move copper in liver cells, and mutations in it cause it to lose its ability to function. The impaired excretion of copper from the liver leads to the accumulation … Read more
Parkinson’s Disease is a brain disorder which is caused by decreased levels of dopamine and the resulting degeneration of the neurons in the substantia nigra of the brain. Physical effects of Parkinson’s Disease include shaking, stiffness, issues with balance and coordination, memory loss and even dementia. As early as 175 AD, Parkinson’s disease has been … Read more
Huntington’s disease (HD) is caused by a dominant genetic mutation which means that if one parent develops the disease there is a 50/50 chance of their child also having the gene responsible for causing the disease. This mutation involves the protein huntingtin and is an insertion of multiple glutamine amino acids into the protein sequence … Read more
Menkes disease (MD) is caused by an X-linked inherited genetic mutation of the Cu-ATPase ATP7A. Since, it is an X-linked disorder, predominantly affects to the male population. It is the fatal disease for the children which can cause lethality within first 3 years of life. The hallmarks of MD are unusual sparse kinky hair on the … Read more
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 … Read more
