{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:36:16Z","timestamp":1772253376140,"version":"3.50.1"},"reference-count":182,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T00:00:00Z","timestamp":1650067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Telethon Foundation","doi-asserted-by":"publisher","award":["GGP20037"],"award-info":[{"award-number":["GGP20037"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The 22q11 deletion syndrome (DS) is the most common microdeletion syndrome in humans and gives a high probability of developing psychiatric disorders. Synaptic and neuronal malfunctions appear to be at the core of the symptoms presented by patients. In fact, it has long been suggested that the behavioural and cognitive impairments observed in 22q11DS are probably due to alterations in the mechanisms regulating synaptic function and plasticity. Often, synaptic changes are related to structural and functional changes observed in patients with cognitive dysfunctions, therefore suggesting that synaptic plasticity has a crucial role in the pathophysiology of the syndrome. Most interestingly, among the genes deleted in 22q11DS, six encode for mitochondrial proteins that, in mouse models, are highly expressed just after birth, when active synaptogenesis occurs, therefore indicating that mitochondrial processes are strictly related to synapse formation and maintenance of a correct synaptic signalling. Because correct synaptic functioning, not only requires correct neuronal function and metabolism, but also needs the active contribution of astrocytes, we summarize in this review recent studies showing the involvement of synaptic plasticity in the pathophysiology of 22q11DS and we discuss the relevance of mitochondria in these processes and the possible involvement of astrocytes.<\/jats:p>","DOI":"10.3390\/ijms23084412","type":"journal-article","created":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T04:21:28Z","timestamp":1650255688000},"page":"4412","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2161-4135","authenticated-orcid":false,"given":"Eva","family":"de Oliveira Figueiredo","sequence":"first","affiliation":[{"name":"Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca","family":"Bondiolotti","sequence":"additional","affiliation":[{"name":"Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Laugeray","sequence":"additional","affiliation":[{"name":"Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8279-3600","authenticated-orcid":false,"given":"Paola","family":"Bezzi","sequence":"additional","affiliation":[{"name":"Department of Fundamental Neurosciences, University of Lausanne, 1005 Lausanne, Switzerland"},{"name":"Department of Pharmacology and Physiology, University of Rome Sapienza, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1038\/mp.2017.161","article-title":"A neurogenetic model for the study of schizophrenia spectrum disorders: The International 22q11.2 Deletion Syndrome Brain Behavior Consortium","volume":"22","author":"Gur","year":"2017","journal-title":"Mol. 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