Menkes Disease

          The defective ATP7A gene involved in Menke's Disease (MD) contains 23 exons (coding regions) and the coding region encompasses 4500 bp. About 300 different types of mutations have been identified in the ATP7A gene (Moller & Horn, 2008) .  Here is an illustration of what the fully functional ATP7A protein looks like:  Fig. 1. Domain organization of the ATP7A protein. The positions and sequence motifs conserved among the family of ATPases are shown. (Moller, Mogensen & Horn, 2009, 1274) The receptor's main job is to be expressed in the cells of the intestines and transport Copper from the small intestines to the blood stream. ATP7A protein mutations result in a "loss of function" due to the impaired binding or metabolism of Copper (Nussbaum, McInnes, & Willard, 2016). It is also responsible for shuttling enzyme-bound copper from the golgi body to the cell membrane when the copper level is too high inside of the ...

As mentioned in previous posts, Menke's Disease (MD) is a disease that is caused by the disregulation of copper because of a faulty ATP7A gene. There is currently no cure, but the injection of copper-histidine has been identified as a replacement treatment to prevent death, reduce neurological damage and improve symptoms associated with MD (National Institutes of Health, 2016). Those who are diagnosed swiftly and those who have retained some ATP7A function, have the best outcome. While those who have had a delay in diagnosis and those who have a complete loss-of-function of ATP7A may not respond at all to copper-histidine treatment (Kaler et al., 2008). Since this project is for a Health Care Genetics course, I'd like to discuss some treatments that may be possible in the future. Current MD advances have not established a cure, but treating the genetic cause may offer a cure. Nonsense mutations make up about 18% of the ATP7A mutations involved in MD (Moller et al., 200...