New Rett syndrome genetics data have been reported by scientists at Tottori University, Research Center
2007 OCT 9 -- New investigation results, 'Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome,' are detailed in a study published in Brain and Development. According to recent research from Yonago, Japan, "Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder mostly affecting female and is mainly caused by mutations of methyl-CpG-binding protein 2 gene (MECP2). MECP2, which has a crucial role for transcriptional repression and chromatin remodeling, consists of methyl-CpG binding domain (MBD) and transcriptional repression domain (TRD)." "Paternally imprinted distal-less homeobox gene 5 (DLX5), that has an important role for the development of gamma-aminobutyric acid (GABA)-ergic neurons, was identified as a target of MECP2 recently. We selected the 12 samples from the 40 RTT lymphoblast cell lines by a mononucleotide repeat polymorphism within the 3'UTR of DLX5. In 12 samples, 5 and 6 samples have the mutations located in MBD and TRD, respectively. No expression and 25-75% expression of the mutated MECP2 allele were detected in 4 samples with MBD mutation and 4 samples with TRD mutation. In this study, the expression of mutated MECP2 alleles was low especially in the samples with the MBD mutation suggesting the biased frequency of the cells during the culture," wrote N. Itaba-Matsumoto and colleagues, Tottori University, Research Center. The researchers concluded: "However, a sample with high expression of mutated MECP2 in TRD mutation showed bialleic expression of DLX5 suggesting loss of imprinting.'." Itaba-Matsumoto and colleagues published their study in Brain and Development (Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome. Brain and Development, 2007;29(8):491-5). For additional information, contact N. Itaba-Matsumoto, Research Center for Bioscience and Technology, Division of Functional Genomics, Tottori University, 86 Nishicho, Yonago, Tottori 683-8503, Japan. Publisher contact information for the journal Brain and Development is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands. Keywords: Japan, Yonago, Rett Syndrome Genetics, Rett Syndrome. This article was prepared by Science Letter editors from staff and other reports. Copyright 2007, Science Letter via NewsRx.com.
|
