Texas A Research Leads to Breakthrough Treatment for Rare Menkes Disease
A research team at Texas A&M University, led by Dr. Vishal Gohil, has developed a promising treatment for Menkes disease, a rare genetic disorder that prevents the body from absorbing copper. This breakthrough has significantly improved the quality of life for Juanito, a 24-year-old man from Spain, who is the oldest known person living with the condition. Menkes disease typically leads to severe neurological decline and often results in death before the age of three. The disease is caused by a mutated ATP7A protein, which hinders copper transport to the brain. Juanito's case is particularly rare as his mutation allows for 10-20% of normal copper transport, enabling him to survive longer than most. For two decades, Juanito received weekly copper histidine injections, which helped his body but could not effectively deliver copper to his brain. The new drug, elesclomol, developed by Gohil's lab, directly carries copper across cell membranes into mitochondria, bypassing the defective protein. Juanito began rec...
