{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T08:39:09Z","timestamp":1791707949920,"version":"4.3.4"},"reference-count":112,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology Research International"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli and the metabolic demands of the cell. Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. While these disorders can still be considered rare, defective mitochondrial dynamics seem to play a significant role in the molecular and cellular pathogenesis of more common neurodegenerative diseases, for example, Alzheimer\u2019s and Parkinson\u2019s diseases. This review provides an overview of the basic molecular mechanisms involved in mitochondrial fusion and focuses on the alteration in mitochondrial DNA amount resulting from impairment of mitochondrial dynamics. We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion.<\/jats:p>","DOI":"10.1155\/2013\/293893","type":"journal-article","created":{"date-parts":[[2013,5,27]],"date-time":"2013-05-27T17:00:43Z","timestamp":1369674043000},"page":"1-11","source":"Crossref","is-referenced-by-count":96,"title":["Mitochondrial Fusion Proteins and Human Diseases"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1021-2237","authenticated-orcid":true,"given":"Michela","family":"Ranieri","sequence":"first","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Brajkovic","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulietta","family":"Riboldi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6093-9816","authenticated-orcid":true,"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nereo","family":"Bresolin","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"},{"name":"IRCCS Eugenio Medea, Bosisio Parini, 23842 Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1383-5248","authenticated-orcid":true,"given":"Giacomo P.","family":"Comi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"issue":"6098","key":"1","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1126\/science.1219855","volume":"337","year":"2012","journal-title":"Science"},{"issue":"4","key":"2","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.1128\/MCB.14.4.2699","volume":"14","year":"1994","journal-title":"Molecular and Cellular Biology"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/90976"},{"issue":"20","key":"4","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1212\/WNL.0b013e3182563c46","volume":"78","year":"2012","journal-title":"Neurology"},{"issue":"8","key":"5","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1091\/mbc.12.8.2245","volume":"12","year":"2001","journal-title":"Molecular Biology of the Cell"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007152"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2011.54"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/nature07534"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.171975"},{"key":"10","doi-asserted-by":"crossref","first-page":"15927","DOI":"10.1073\/pnas.0407043101","volume":"101","year":"2004","journal-title":",Proceedings of the National Academy of Sciences of the United States of America"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M400920200"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601184"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C200677200"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E09-03-0252"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2011.05.021"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm298"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm272"},{"issue":"1","key":"18","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awr323","volume":"135","year":"2012","journal-title":"Brain"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.02.026"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2443.2011.01504.x"},{"key":"21","doi-asserted-by":"crossref","first-page":"17190","DOI":"10.1074\/jbc.M212754200","volume":"278","year":"2003","journal-title":"Journal of Biological Chemistry"},{"key":"22","first-page":"872","volume":"6","year":"2006","journal-title":"Nature Cell Biology"},{"issue":"6","key":"23","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1016\/j.semcdb.2010.01.002","volume":"21","year":"2010","journal-title":"Seminars in Cell & Developmental Biology"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00911-10"},{"key":"25","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1161\/CIRCRESAHA.111.258723","volume":"109","year":"2011","journal-title":"Circulation Research"},{"issue":"5","key":"26","volume":"1","year":"2012","journal-title":"Journal of the American Heart Association"},{"issue":"9","key":"27","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.1136\/jmg.2003.016576","volume":"41","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1086\/324651"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.03.005"},{"issue":"4","key":"30","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/0006-291X(68)90753-5","volume":"30","year":"1968","journal-title":"Biochemical and Biophysical Research Communications"},{"issue":"7","key":"31","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1091\/mbc.8.7.1233","volume":"8","year":"1997","journal-title":"Molecular Biology of the Cell"},{"issue":"3","key":"32","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/jemt.1070270303","volume":"27","year":"1994","journal-title":"Microscopy Research and Technique"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2736(97)00266-6"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80319-0"},{"key":"35","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1126\/science.283.5407.1493","volume":"283","year":"1999","journal-title":"Science"},{"issue":"5","key":"36","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/13014","volume":"1","year":"1999","journal-title":"Nature Cell Biology"},{"issue":"5","key":"37","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/S1097-2765(00)80391-3","volume":"4","year":"1999","journal-title":"Molecular Cell"},{"issue":"3","key":"38","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/oxfordjournals.jbchem.a021784","volume":"122","year":"1997","journal-title":"Journal of Biochemistry"},{"issue":"10","key":"39","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1242\/jcs.111.10.1341","volume":"111","year":"1998","journal-title":"Journal of Cell Science"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1126\/science.1100612"},{"key":"41","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/978-1-59745-365-3_32","volume":"372","year":"2007","journal-title":"Methods in Molecular Biology"},{"issue":"5","key":"59","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","volume":"36","year":"2004","journal-title":"Nature Genetics"},{"key":"67","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000171345.62270.29"},{"issue":"2","key":"68","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/ana.20797","volume":"59","year":"2006","journal-title":"Annals of Neurology"},{"key":"86","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000289194.89359.a1"},{"key":"84","first-page":"771","volume":"133, part 3","year":"2010","journal-title":"Brain"},{"issue":"2","key":"90","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00401-012-1036-y","volume":"125","year":"2013","journal-title":"Acta Neuropathologica"},{"issue":"22","key":"93","doi-asserted-by":"crossref","first-page":"4827","DOI":"10.1093\/hmg\/dds352","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"42"},{"key":"43","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.073080"},{"key":"44","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.079293"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201007013"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1126\/science.1099793"},{"key":"47","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020655"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E07-02-0164"},{"issue":"2","key":"49","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3233\/JAD-2001-3203","volume":"3","year":"2001","journal-title":"Journal of Alzheimer's Disease"},{"key":"50","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200704110"},{"key":"51","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.07.108"},{"key":"52","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.00437.2010"},{"key":"53","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00050-0"},{"key":"54","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E02-06-0330"},{"key":"55","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0365-z"},{"issue":"5","key":"56","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1001\/archneur.57.5.638","volume":"57","year":"2000","journal-title":"Archives of Neurology"},{"issue":"2","key":"57","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","volume":"103","year":"1980","journal-title":"Brain"},{"issue":"2","key":"58","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1212\/WNL.0b013e3182242d4d","volume":"77","year":"2011","journal-title":"Neurology"},{"key":"60","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1199-2"},{"key":"61","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl174"},{"issue":"8","key":"62","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","volume":"129","year":"2006","journal-title":"Brain"},{"key":"63","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2009.284"},{"key":"64","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2008.01.010"},{"key":"65","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200611080"},{"key":"66","volume-title":"Hereditary motor and sensory neuropathy","volume":"2","year":"1993"},{"issue":"2","key":"69","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jnnp.60.2.195","volume":"60","year":"1996","journal-title":"Journal of Neurology Neurosurgery and Psychiatry"},{"key":"70","doi-asserted-by":"publisher","DOI":"10.1007\/s100480100115"},{"key":"71","doi-asserted-by":"publisher","DOI":"10.1038\/79944"},{"key":"72","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(03)00390-8"},{"key":"73","first-page":"1","volume":"164","year":"1959","journal-title":"Acta Ophthalmologica"},{"issue":"5","key":"74","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/humu.20161","volume":"25","year":"2005","journal-title":"Human Mutation"},{"key":"75","first-page":"373","volume":"104","year":"1961","journal-title":"Revue Neurologique"},{"key":"76","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.563"},{"key":"77","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00047-1"},{"key":"78","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl233"},{"issue":"2","key":"79","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ng.2501","volume":"45","year":"2013","journal-title":"Nature Genetics"},{"issue":"2","key":"80","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ajhg.2012.12.014","volume":"92","year":"2013","journal-title":"American Journal of Human Genetics"},{"key":"81","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/brain\/aws258","volume":"135","year":"2012","journal-title":"Brain"},{"issue":"1","key":"82","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1093\/hmg\/ddr438","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"83","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.009"},{"issue":"10","key":"85","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1016\/j.biocel.2009.04.012","volume":"41","year":"2009","journal-title":"International Journal of Biochemistry & Cell Biology"},{"key":"87","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.228"},{"key":"88","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq288"},{"key":"89","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/brain\/awr346","volume":"135","year":"2012","journal-title":"Brain"},{"issue":"2","key":"91","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1750-3639.1992.tb00682.x","volume":"2","year":"1992","journal-title":"Brain Pathology"},{"issue":"4","key":"92","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.mito.2012.05.002","volume":"12","year":"2012","journal-title":"Mitochondrion"},{"key":"94","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0435-2"},{"key":"95","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq306"},{"issue":"2","key":"96","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.bbadis.2011.10.016","volume":"1822","year":"2012","journal-title":"Biochimica et Biophysica Acta"},{"key":"97","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-060408-093701"},{"issue":"5","key":"98","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/em.20586","volume":"51","year":"2010","journal-title":"Environmental and Molecular Mutagenesis"},{"key":"99","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1357-09.2009"},{"issue":"11","key":"100","doi-asserted-by":"crossref","first-page":"2538","DOI":"10.1093\/hmg\/dds072","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"101","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr139"},{"issue":"1","key":"102","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrm3028","volume":"12","year":"2011","journal-title":"Nature Reviews Molecular Cell Biology"},{"key":"103","doi-asserted-by":"publisher","DOI":"10.1038\/33416"},{"key":"104","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq419"},{"issue":"12","key":"105","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1523\/JNEUROSCI.6338-11.2012","volume":"32","year":"2012","journal-title":"Journal of Neuroscience"},{"issue":"22","key":"106","doi-asserted-by":"crossref","first-page":"4817","DOI":"10.1093\/hmg\/dds311","volume":"21","year":"2012","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"107","first-page":"106","volume":"36","year":"1989","journal-title":"Molecular Pharmacology"},{"issue":"5","key":"108","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1523\/JNEUROSCI.12-05-01882.1992","volume":"12","year":"1992","journal-title":"Journal of Neuroscience"},{"key":"109","first-page":"2282","volume":"676","year":"1996","journal-title":"Journal of Neurochemistry"},{"issue":"2","key":"110","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1038\/cdd.2012.128","volume":"20","year":"2013","journal-title":"Cell Death & Differentiation"},{"key":"111","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.167155"},{"key":"112","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2011.117"}],"container-title":["Neurology Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/nri\/2013\/293893.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/nri\/2013\/293893.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/nri\/2013\/293893.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T02:40:30Z","timestamp":1715395230000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/nri\/2013\/293893\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":112,"alternative-id":["293893","293893"],"URL":"https:\/\/doi.org\/10.1155\/2013\/293893","relation":{},"ISSN":["2090-1852","2090-1860"],"issn-type":[{"value":"2090-1852","type":"print"},{"value":"2090-1860","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}