As most people know, there are many mutations of MecP2 that cause Rett syndrome and more than one disorder associated with the MecP2 gene. One of those disorders is MecP2 duplication. Simply put, if you have too little MecP2 protein you develop Rett syndrome, too much MecP2 protein?- then you have MecP2 duplication syndrome. From the NIH website:
“MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.”
Now comes Dr. Zoghbi and her teammate Yehezkel Sztainberg and they ask themselves “since we know Rett is reversible what about MecP2 duplication??” And, guess what? It IS!!
Such tremendous news, especially for the parents of boys. So much focus and trials are on the girls, this must give hope to that small, but devoted and as equally devastated families of boys who suffer from this disorder. But, it is good news for all of us, as we move one step closer to cures/treatment for the various MecP2 disorders that cause Rett like syndromes. Thank you Dr. Zoghbi, once again for your dedication to our children.
Here’s hoping this is just one of the many MecP2 related disorders that Dr. Zoghbi will be able to highlight as a member of the Chan Zuckerberg Initiative!