{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:08:21Z","timestamp":1792796901311,"version":"4.5.0"},"reference-count":219,"publisher":"The Royal Society","issue":"2","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"funder":[{"name":"Angel Ava Fund"},{"DOI":"10.13039\/100016499","name":"Rett Syndrome Research Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100016499","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["royalsocietypublishing.org"],"crossmark-restriction":true},"short-container-title":["Open Biol."],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>\n            Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (\n            <jats:italic>MECP2<\/jats:italic>\n            ), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which\n            <jats:italic>MECP2<\/jats:italic>\n            mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of\n            <jats:italic>MECP2<\/jats:italic>\n            in the central nervous system. However, the variety of phenotypes identified in\n            <jats:italic>Mecp2<\/jats:italic>\n            mutant mouse models and RTT patients implicate important roles for MeCP2 in peripheral systems. Here, we review the history of RTT, highlighting breakthroughs in the field that have led us to present day. We explore the current evidence supporting metabolic dysfunction as a component of RTT, presenting recent studies that have revealed perturbed lipid metabolism in the brain and peripheral tissues of mouse models and patients. Such findings may have an impact on the quality of life of RTT patients as both dietary and drug intervention can alter lipid metabolism. Ultimately, we conclude that a thorough knowledge of MeCP2's varied functional targets in the brain and body will be required to treat this complex syndrome.\n          <\/jats:p>","DOI":"10.1098\/rsob.170216","type":"journal-article","created":{"date-parts":[[2018,2,14]],"date-time":"2018-02-14T10:10:14Z","timestamp":1518603014000},"update-policy":"https:\/\/doi.org\/10.1098\/crossmark-policy","source":"Crossref","is-referenced-by-count":187,"title":["Rett syndrome: a neurological disorder with metabolic components"],"prefix":"10.1098","volume":"8","author":[{"given":"Stephanie M.","family":"Kyle","sequence":"first","affiliation":[{"name":"Genetics and Genome Biology Program, The Hospital for Sick Children, The Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada M5G 0A4"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0880-245X","authenticated-orcid":false,"given":"Neeti","family":"Vashi","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program, The Hospital for Sick Children, The Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada M5G 0A4"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3562-2099","authenticated-orcid":false,"given":"Monica J.","family":"Justice","sequence":"additional","affiliation":[{"name":"Genetics and Genome Biology Program, The Hospital for Sick Children, The Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada M5G 0A4"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A1"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","published-online":{"date-parts":[[2018,2,14]]},"reference":[{"key":"e_1_3_6_2_2","first-page":"723","article-title":"On a unusual brain atrophy syndrome in hyperammonemia in childhood","volume":"1946","author":"Rett A","year":"1966","unstructured":"Rett A. 1966 On a unusual brain atrophy syndrome in hyperammonemia in childhood. 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