| 翻訳と辞書 |
| Bilateral frontoparietal polymicrogyria ： ウィキペディア英語版 |
Bilateral frontoparietal polymicrogyria
Bilateral frontoparietal polymicrogyria (BFPP) is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyri have an increase number of folds and smaller folds than usual.〔"Bilateral Frontoparietal Polymicrogyria (BFPP)." Welcome to the Research View. N.p., n.d. Web. 05 Nov. 2012. .〕 Polymicrogyria is defined as a cerebral malformation of cortical development in which the normal gyral pattern of the surface of the brain is replaced by an excessive number of small, fused gyri separated by shallow sulci and abnormal cortical lamination. From ongoing research, mutation in GPR56,a member of the adhesion G protein-coupled receptor (GPCR) family, results in BFPP. These mutations are located in different regions of the protein without any evidence of a relationship between the position of the mutation and phenotypic severity.〔Bahi-Buisson, N., K. Poirier, N. Boddaert, C. Fallet-Bianco, N. Specchio, E. Bertini, O. Caglayan, K. Lascelles, C. Elie, J. Rambaud, M. Baulac, I. An, P. Dias, V. Des Portes, M. L. Moutard, C. Soufflet, M. El Maleh, C. Beldjord, L. Villard, and J. Chelly. "GPR56-related Bilateral Frontoparietal Polymicrogyria: Further Evidence for an Overlap with the Cobblestone Complex." Brain 133.11 (2010): 3194-209. Print〕 It is also found that GPR56 plays a role in cortical pattering.〔Piao, Xianhua, and Christopher A. Walsh. "A Novel Signaling Mechanism in Brain Development." Pediatric Research 56.3 (2004): 309-10. Print.〕
==Genetics==
The GPR56 is grouped in the B family of GPCRs. This GPCR group have long N termini characterized by an extracellular “cysteine box” and hydrophilic, potentially mucin-rich. The cysteine box contains four conserved cysteines and two tryptophans arranged in a specific fashion (C-x2-W-x6-16-W-x4-C-x10-22-C-x-C) just before the first transmembrane domain and serves as a cleavage site in some members of this group of G protein–coupled receptors.〔Piao, X., Chang, B. S., Bodell, A., Woods, K., BenZeev, B., Topcu, M., Guerrini, R., Goldberg-Stern, H., Sztriha, L., Dobyns, W. B., Barkovich, A. J. and Walsh, C. A. (2005), Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol., 58: 680–687. doi: 10.1002/ana.20616〕 Although,the molecular and cellular mechanisms of how GPR56 regulates brain development remain largely unknown.〔Luo, R., S.-J. Jeong, Z. Jin, N. Strokes, S. Li, and X. Piao. "G Protein-coupled Receptor 56 and Collagen III, a Receptor-ligand Pair, Regulates Cortical Development and Lamination." Proceedings of the National Academy of Sciences 108.31 (2011): 12925-2930. Print.〕 These types of receptors play an essential role in biological processes including embryonic development, central nervous system (CNS), immune system, and tumorigenesis.〔Chiang NY, Hsiao CC, Huang YS, Chen HY, Hsieh IJ, et al. Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. J Biol Chem. 2011;286:14215–14225〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
■ウィキペディアで「Bilateral frontoparietal polymicrogyria」の詳細全文を読む
スポンサード リンク
| 翻訳と辞書 : 翻訳のためのインターネットリソース |
Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.
|
|