pathogenesis of peroxisomal deficiency disorders (zellweger syndrome) may be mediated by misregulation of the gabaergic system via the diazepam binding inhibitor缺过氧化物酶病症的发病机理(齐薇格综合征)可能由misregulation gaba ergic系统通过安定抑制剂具有约束力.pdfVIP

BMC Pediatrics BioMed Central Hypothesis Open Access Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor Rainer Breitling* Address: Department of Biology, San Diego State University, San Diego, USA Email: Rainer Breitling* - R.Breitling@bio.gla.ac.uk * Corresponding author Published: 12 March 2004 Received: 13 November 2003 Accepted: 12 March 2004 BMC Pediatrics 2004, 4:5 This article is available from: /1471-2431/4/5 © 2004 Breitling; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the articles original URL. Abstract Background: Zellweger syndrome (ZS) is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is known in considerable detail, it is unclear how peroxisome deficiency leads to the most severe neurological symptoms. Recent analysis of ZS mouse models has all but invalidated previous hypotheses. Hypothesis: We sugg