{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:59:21Z","timestamp":1792155561997,"version":"4.4.0"},"reference-count":134,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"REGIONE PUGLIA-MALATTIE RARE-Petruzzella","award":["246 10.09.2019_UPB-SMBNOS"],"award-info":[{"award-number":["246 10.09.2019_UPB-SMBNOS"]}]},{"name":"UILDM and CollaGe"},{"name":"Opera Pia Foundation"},{"name":"Italian Ministry of Health-Ricerca Corrente","award":["2021- 5X1000"],"award-info":[{"award-number":["2021- 5X1000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dominant mutations in ubiquitously expressed mitofusin 2 gene (MFN2) cause Charcot-Marie-Tooth type 2A (CMT2A; OMIM 609260), an inherited sensory-motor neuropathy that affects peripheral nerve axons. Mitofusin 2 protein has been found to take part in mitochondrial fusion, mitochondria\u2013endoplasmic reticulum tethering, mitochondrial trafficking along axons, mitochondrial quality control and various types of cancer, in which MFN2 has been indicated as a tumor suppressor gene. Discordant data on the mitochondrial altered phenotypes in patient-derived fibroblasts harboring MFN2 mutations and in animal models have been reported. We addressed some of these issues by focusing on mitochondria behavior during autophagy and mitophagy in fibroblasts derived from a CMT2AMFN2 patient with an MFN2650G\u2009&amp;gt;\u2009T\/C217F mutation in the GTPase domain. This study investigated mitochondrial dynamics, respiratory capacity and autophagy\/mitophagy, to tackle the multifaceted MFN2 contribution to CMT2A pathogenesis. We found that MFN2 mutated fibroblasts showed impairment of mitochondrial morphology, bioenergetics capacity, and impairment of the early stages of autophagy, but not mitophagy. Unexpectedly, transcriptomic analysis of mutated fibroblasts highlighted marked differentially expressed pathways related to cell population proliferation and extracellular matrix organization. We consistently found the activation of mTORC2\/AKT signaling and accelerated proliferation in the CMT2AMFN2 fibroblasts. In conclusion, our evidence indicates that MFN2 mutation can positively drive cell proliferation in CMT2AMFN2 fibroblasts.<\/jats:p>","DOI":"10.1093\/hmg\/ddac201","type":"journal-article","created":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T10:58:29Z","timestamp":1661165909000},"page":"333-350","source":"Crossref","is-referenced-by-count":16,"title":["Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts"],"prefix":"10.1093","volume":"32","author":[{"given":"Paola","family":"Zanfardino","sequence":"first","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Longo","sequence":"additional","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Amati","sequence":"additional","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Morani","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Pisa , 56126 Pisa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6549-0114","authenticated-orcid":false,"given":"Ernesto","family":"Picardi","sequence":"additional","affiliation":[{"name":"Department of Biosciences , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"},{"name":"University of Bari , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"},{"name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council , 70125 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Girolamo","sequence":"additional","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Pafundi","sequence":"additional","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon N","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Biosciences , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"},{"name":"University of Bari , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Manzari","sequence":"additional","affiliation":[{"name":"Department of Biosciences , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"},{"name":"University of Bari , Biotechnology and Biopharmaceutics, , 70125 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Apollonia","family":"Tullo","sequence":"additional","affiliation":[{"name":"Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council , 70125 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Doccini","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , 56128 Pisa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo M","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , 56128 Pisa , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8771-6033","authenticated-orcid":false,"given":"Vittoria","family":"Petruzzella","sequence":"additional","affiliation":[{"name":"Department of Medical Basic Sciences , Neurosciences and Sense Organs, , 70124 Bari , Italy"},{"name":"University of Bari Aldo Moro , Neurosciences and Sense Organs, , 70124 Bari , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,22]]},"reference":[{"key":"2023011411265134700_ref1","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.tibs.2020.03.009","article-title":"Reciprocal regulation of mitochondrial 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