PMID- 18534925 OWN - NLM STAT- MEDLINE DCOM- 20090415 LR - 20211020 IS - 1569-9048 (Print) IS - 1569-9048 (Linking) VI - 164 IP - 1-2 DP - 2008 Dec 10 TI - Breathing dysfunction in Rett syndrome: understanding epigenetic regulation of the respiratory network. PG - 55-63 LID - 10.1016/j.resp.2008.04.005 [doi] AB - Severely arrhythmic breathing is a hallmark of Rett syndrome (RTT) and profoundly affects quality of life for patients and their families. The last decade has seen the identification of the disease-causing gene, methyl-CpG-binding protein 2 (Mecp2) and the development of mouse models that phenocopy many aspects of the human syndrome, including breathing dysfunction. Recent studies have begun to characterize the breathing phenotype of Mecp2 mutant mice and to define underlying electrophysiological and neurochemical deficits. The picture that is emerging is one of defects in synaptic transmission throughout the brainstem respiratory network associated with abnormal expression in several neurochemical signaling systems, including brain-derived neurotrophic factor (BDNF), biogenic amines and gamma-amino-butyric acid (GABA). Based on such findings, potential therapeutic strategies aimed at improving breathing by targeting deficits in neurochemical signaling are being explored. This review details our current understanding of respiratory dysfunction and underlying mechanisms in RTT with a particular focus on insights gained from mouse models. FAU - Ogier, Michael AU - Ogier M AD - Department of Neurosciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106-4975, USA. FAU - Katz, David M AU - Katz DM LA - eng GR - R01 NS057398/NS/NINDS NIH HHS/United States GR - R01 NS057398-02/NS/NINDS NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't PT - Review PL - Netherlands TA - Respir Physiol Neurobiol JT - Respiratory physiology & neurobiology JID - 101140022 RN - 0 (1-(1,4-benzodioxan-6-ylcarbonyl)piperidine) RN - 0 (Dioxoles) RN - 0 (Mecp2 protein, mouse) RN - 0 (Methyl-CpG-Binding Protein 2) RN - 0 (Piperidines) SB - IM MH - Animals MH - Dioxoles/therapeutic use MH - Disease Models, Animal MH - *Epigenesis, Genetic MH - Humans MH - Methyl-CpG-Binding Protein 2/genetics MH - Mice MH - Mutation/genetics MH - Piperidines/therapeutic use MH - *Respiration Disorders/drug therapy/etiology/genetics/pathology MH - Respiratory Center/metabolism/physiopathology MH - Respiratory System/metabolism/physiopathology MH - Rett Syndrome/*complications/*genetics PMC - PMC2664709 MID - NIHMS97587 EDAT- 2008/06/07 09:00 MHDA- 2009/04/16 09:00 PMCR- 2009/12/10 CRDT- 2008/06/07 09:00 PHST- 2008/03/01 00:00 [received] PHST- 2008/04/09 00:00 [revised] PHST- 2008/04/10 00:00 [accepted] PHST- 2008/06/07 09:00 [pubmed] PHST- 2009/04/16 09:00 [medline] PHST- 2008/06/07 09:00 [entrez] PHST- 2009/12/10 00:00 [pmc-release] AID - S1569-9048(08)00101-8 [pii] AID - 10.1016/j.resp.2008.04.005 [doi] PST - ppublish SO - Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):55-63. doi: 10.1016/j.resp.2008.04.005.