Rett Syndrome


Studies from Sheba Medical Center yield new information about gene therapy



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2007 AUG 13 -- Researchers detail in "Rett syndrome," new data in gene therapy. According to a study from Israel, "Rett syndrome (RS) is an X-linked neurodevelopmental disorder and the second most common cause of genetic mental retardation in females. Different mutations in MECP2 are found in up to 95% of typical cases of RS."

"This mainly neuronal expressed gene functions as a major transcription repressor. Extensive studies on girls who have RS and mouse models are aimed at finding main gene targets for MeCP2 protein and defining neuropathologic changes caused by its defects. Studies comparing autistic features in RS with idiopathic autism and mentally retarded patients are presented. Decreased dendritic arborization is common to RS and autism, leading to further research on similarities in pathogenesis, including MeCP2 protein levels in autistic brains and MeCP2 effects on genes connected to autism, like DLX5 and genes on 15q11-13 region. This area also is involved in Angelman syndrome, which has many similarities to RS," wrote Zeev Ghidoni B. Ben and colleagues, Sheba Medical Center.

The researchers concluded: "Despite these connections, MECP2 mutations in nonspecific autistic and mentally retarded populations are rare."

Ben and colleagues published the results of their research in Child and Adolescent Psychiatric Clinics of North America (Rett syndrome. Child and Adolescent Psychiatric Clinics of North America, 2007;16(3):723-43).

For additional information, contact B. Ben Zeev Ghidoni, Safra Pediatric Hospital, Pediatric Neurology Unit, Sheba Medical Center, Ramat-Gan, Israel.

The publisher of the journal Child and Adolescent Psychiatric Clinics of North America can be contacted at: W B Saunders Co., Independence Square West Curtis Center, Ste. 300, Philadelphia, PA 19106-3399, USA.

Keywords: Israel, Biotechnology, Gene Therapy, Genetics, Genomics, Mental Health, Psychiatric, Psychiatry, Rett Syndrome, Rett's Syndrome.

This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2007, Mental Health Weekly Digest via NewsRx.com.