The pioneering research, conducted by No\u00ebl C Derecki and colleagues in Kipnis\u2019 lab, suggests that bone marrow transplantation may offer a potential treatment for humans with Rett syndrome, which is typically deadly in boys and debilitating in girls.<\/p>\n The findings connect the immune system to Rett in a major \u2013 and previously unexpected \u2013 manner<\/strong>. The implications may reach even beyond Rett: \u201cEverything we found in the mouse models for Rett may have implications for other neurological disorders which may or may not be on the autistic spectrum<\/strong>,\u201d Kipnis says.<\/p>\n \u201cWe are taking a very unconventional approach to a brain disease by targeting the immune system instead,\u201d Derecki says. \u201cI joined the Kipnis lab precisely for this reason \u2014 conventional approaches to many diseases have simply failed. We try things all the time that other labs would reject out of hand as \u2018too radical\u2019 or \u2018crazy.\u2019 We enjoy pushing the envelope.\u201d<\/p>\n About Rett Syndrome<\/strong><\/p>\n Rett syndrome is predominantly caused by the mutation of an X-chromosome gene named MECP2. Rett syndrome is fatal in human males, resulting in miscarriage, stillbirth or early death. In girls, who have one normal X and one mutant X, the symptoms include seizures, uncontrollable hand clasping, difficulty walking, speech issues and frequent apneas, when they stop breathing.<\/p>\n A mouse model for Rett syndrome duplicates many of the same symptoms. Mice clasp their legs, have involuntary tremors and have extreme difficulty walking. One of the cardinal symptoms is breathing difficulties. After the UVA research team replaced the bone marrow of male mice \u2014 with severe disease and a lifespan of only 8 weeks \u2014 the mice grew stronger, gained weight and began to walk better. The animals\u2019 breathing improved dramatically. They also began living significantly longer, with the oldest now approaching a year of age. \u201cThe results were absolutely amazing,\u201d Kipnis says.<\/p>\n Understanding Why<\/strong><\/p>\n The UVA researchers believe replacing the immune system is fostering a healthier environment in the brain, improving neuron function<\/strong>. The study data suggest that the dramatic results are due to the repopulation of microglia, immune cells that clear debris in the brain<\/strong>. Unlike other brain cells, such as neurons and astroglia, microglia can be replaced, Kipnis says. \u201cThose are immune-derived cells,\u201d he says. \u201cSo by fixing bone marrow, you could fix the brain.\u201d<\/p>\n To test this hypothesis, they repeated the bone-marrow experiment, only shielding the mice\u2019s brains from radiation. This prevented the immune system from entering the brain itself. Only the body was repopulated with immune cells. Those mice showed only slight improvement in Rett symptoms.<\/p>\n The UVA study findings have been published online by Nature<\/em> in a letter authored by Derecki, James C. Cronk, Zhenjie Lu, Eric Xu, Stephen B.G. Abbott, Patrice G. Guyenet and Kipnis.<\/p>\n The UVA research, funded primarily by the Rett Syndrome Research Trust, builds on the work of Gail Mandel, of Oregon Health and Science University, who showed that astroglia (another type of glial cell) were involved in Rett syndrome, Adrian Bird, of the University of Edinburgh, who demonstrated that Rett symptoms could be reversed in genetically modified adult mice, and Huda Y. Zoghbi of Baylor College of Medicine, who identified the gene responsible for Rett syndrome.<\/p>\n<\/div>\n<\/blockquote>\n","protected":false},"excerpt":{"rendered":" From the University of Virginia press release via HealthCanal: Researchers led by Jonathan Kipnis at the University of Virginia School of Medicine have, for the first time, used an immune… Read more »<\/a><\/p>\n","protected":false},"author":4,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[10,6],"tags":[71,42,65],"_links":{"self":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/1936"}],"collection":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/comments?post=1936"}],"version-history":[{"count":1,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/1936\/revisions"}],"predecessor-version":[{"id":1937,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/posts\/1936\/revisions\/1937"}],"wp:attachment":[{"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/media?parent=1936"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/categories?post=1936"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/therapytoronto.ca\/news\/wp-json\/wp\/v2\/tags?post=1936"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}![\"\"](\"http:\/\/therapytoronto.ca\/images\/blogpics\/Mice.jpg\" "\\"mice\\"")
Researchers led by Jonathan Kipnis at the University of Virginia School of Medicine have, for the first time, used an immune therapy to halt the symptoms of Rett syndrome, an autism spectrum disorder, in test mice.<\/strong><\/p>\n