I begin each morning by pouring through the day’s newly published scientific papers. I relish this part of my day as I scour the titles and abstracts looking for any that may have relevancy to Rett Syndrome and MECP2. I am rarely disappointed.
Papers of interest are compiled and distributed to the Rett Syndrome scientific community via RTT Science Watch, an electronic newsletter with a subscribership of a thousand researchers and clinicians. I follow up with the authors of these papers of interest via email or phone. Some of these scientists will attend one of our think-tanks, or participate in conference calls, and wind up becoming Rett researchers.
Today I’d like to share a few of the papers that I’ve come across recently that are not specific to Rett Syndrome but demonstrate, instead, evidence of the natural healing powers of the central nervous system. We saw that healing power at work in Adrian Bird’s 2007 Rett reversal experiments and these papers provide further encouraging examples.
A study published a few days ago in the Proceedings of the National Academy of Sciences showed a surprising ability of cats to restore previously damaged myelin – the fatty insulator or nerves (think of it as the plastic coating around electrical wiring) which is damaged in many neurological disorders including multiple sclerosis.
Another encouraging study was just published in the Journal of Neuroscience and shows evidence that individuals who had lost vision due to a stroke can recover their sight through intense daily visual exercises.
Both of these studies show the remarkable healing ability of the brain, even a severely damaged older brain. They bode well for Rett Syndrome.
A third study that recently caught my attention was published in late February in Nature and identifies a gene called IFRD1, that modifies the severity of cystic fibrosis. By analyzing the genetic makeup of 3000 individuals suffering from cystic fibrosis the scientists found that small alterations in this gene correlated with lung disease severity. Scientists will now determine whether IFRD1 is a reasonable drug target. IFRD1 interacts with a class of drugs called histone deacetylases (HDAC) that are also of interest for neurological diseases, including Rett Syndrome.
It is becoming a well accepted fact that the genetic background of individuals may contain small differences that either protect or worsen an existing condition. In Rett Syndrome, for example, there are patients with common MECP2 mutations and normal X inactivation skewing who, in fact, do not have the disorder. These individuals may walk, talk (some in multiple languages), and have normal hand function. They do have some symptoms that are reminiscent of Rett, like anxiety. Efforts aimed at identifying genetic modifiers of MECP2 are ongoing at RSRT. You can read more about this initiative on our website.
I will continue to share examples of studies that fill me with excitement and optimism. It’s important to note that progress in many areas of science will have direct impact on Rett Syndrome. Following these developments, promoting interactions among scientists and facilitating synergies with Rett Syndrome are vital components of RSRT’s work.
Executive Director – RSRT