Posted on 02/20/2007 12:31:00 AM PST by neverdem
Researchers have found that Rett syndrome, a severe form of autism, may not be so entirely beyond repair as supposed. In mice that carry the same genetic defect as human patients and have similar symptoms, the disease can be substantially reversed, even in adult mice, by correcting the errant gene.
This is a surprising result for a neurological disease. Biologists generally assume that if the brain does not wire itself correctly at specific stages of development, the deficit can never be corrected.
The treatment for the Rett mice would not work in people because it involved genetically engineering the mice before conception. But by showing that the neurons are intact, except for the stricken gene, the finding may encourage new approaches. “It gives renewed hope that Rett syndrome will be a treatable disorder, and maybe autism as well,” said Monica Coenraads, co-founder of the Rett Syndrome Research Foundation.
Fred Gage, a brain expert at the Salk Institute, said, “A renewed optimism for finding a therapy for these types of diseases is warranted, I believe.”
Rett syndrome strikes mostly girls, who around the age of 3 start to lose their speech and movement faculties. It is one of the spectrum of autistic disorders, but unlike most of the others it is caused by mutations in a single gene.
The gene, known as MECP2, was identified in 1990 by Adrian Bird, a molecular biologist now at Edinburgh University. In 1999, Ruthie Amir and Huda Zoghbi at the Baylor College of Medicine discovered that mutated forms of this gene are the cause of Rett syndrome.
Dr. Bird, as part of his continuing study of what the gene does, engineered a strain of mice whose MECP2 genes had been inactivated with the insertion of an extra block of DNA. When the mice were several...
(Excerpt) Read more at nytimes.com ...
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
This is one of the reasons I still like the NY Times. They may link the titles and abtracts as they did here.
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