{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:10:32Z","timestamp":1790878232115,"version":"4.1.0"},"reference-count":153,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"\u201cFondo Europeo de Desarrollo Regional\u201d (FEDER)","award":["(CB06\/05\/0041)"],"award-info":[{"award-number":["(CB06\/05\/0041)"]}]},{"name":"\u201cFondo Europeo de Desarrollo Regional\u201d (FEDER)","award":["IHMC22\/00025"],"award-info":[{"award-number":["IHMC22\/00025"]}]},{"name":"\u201cInstituto de Salud Carlos\u201d III, CIBERNED","award":["(CB06\/05\/0041)"],"award-info":[{"award-number":["(CB06\/05\/0041)"]}]},{"name":"\u201cInstituto de Salud Carlos\u201d III, CIBERNED","award":["IHMC22\/00025"],"award-info":[{"award-number":["IHMC22\/00025"]}]},{"name":"Universidad de Extremadura","award":["(CB06\/05\/0041)"],"award-info":[{"award-number":["(CB06\/05\/0041)"]}]},{"name":"Universidad de Extremadura","award":["IHMC22\/00025"],"award-info":[{"award-number":["IHMC22\/00025"]}]},{"name":"European Union-NextGenerationEU","award":["(CB06\/05\/0041)"],"award-info":[{"award-number":["(CB06\/05\/0041)"]}]},{"name":"European Union-NextGenerationEU","award":["IHMC22\/00025"],"award-info":[{"award-number":["IHMC22\/00025"]}]},{"name":"Instituto de Salud Carlos III (ISCIII)","award":["(CB06\/05\/0041)"],"award-info":[{"award-number":["(CB06\/05\/0041)"]}]},{"name":"Instituto de Salud Carlos III (ISCIII)","award":["IHMC22\/00025"],"award-info":[{"award-number":["IHMC22\/00025"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Antioxidants"],"abstract":"<jats:p>Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described. These disorders involve diverse pathogenic mechanisms, including loss-of-function mechanisms, toxicity associated with repeat RNA, or repeat-associated non-ATG (RAN) products, resulting in impairments of cellular processes and damaged organelles. Mitochondria, double membrane organelles, play a crucial role in cell energy production, metabolic processes, calcium regulation, redox balance, and apoptosis regulation. Its dysfunction has been implicated in the pathogenesis of repeat expansion diseases. In this review, we provide an overview of the signaling pathways or proteins involved in mitochondrial functioning described in these disorders. The focus of this review will be on the analysis of published data related to three representative repeat expansion diseases: Huntington\u2019s disease, C9orf72-frontotemporal dementia\/amyotrophic lateral sclerosis, and myotonic dystrophy type 1. We will discuss the common effects observed in all three repeat expansion disorders and their differences. Additionally, we will address the current gaps in knowledge and propose possible new lines of research. Importantly, this group of disorders exhibit alterations in mitochondrial dynamics and biogenesis, with specific proteins involved in these processes having been identified. Understanding the underlying mechanisms of mitochondrial alterations in these disorders can potentially lead to the development of neuroprotective strategies.<\/jats:p>","DOI":"10.3390\/antiox12081593","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T10:11:22Z","timestamp":1691662282000},"page":"1593","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mitochondrial Dysfunction in Repeat Expansion Diseases"],"prefix":"10.3390","volume":"12","author":[{"given":"Alberto","family":"Gim\u00e9nez-Bejarano","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Gen\u00e9tica, Facultad de Enfermer\u00eda y Terapia Ocupacional, Universidad de Extremadura, 10003 C\u00e1ceres, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativa, Instituto de Salus Carlos III (CIBER-CIBERNED-ISCIII), 28029 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Extremadura (INUBE), 10003 C\u00e1ceres, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0733-229X","authenticated-orcid":false,"given":"Eva","family":"Alegre-Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Gen\u00e9tica, Facultad de Enfermer\u00eda y Terapia Ocupacional, Universidad de Extremadura, 10003 C\u00e1ceres, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativa, Instituto de Salus Carlos III (CIBER-CIBERNED-ISCIII), 28029 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Extremadura (INUBE), 10003 C\u00e1ceres, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4868-3352","authenticated-orcid":false,"given":"Sokhna M. S.","family":"Yakhine-Diop","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Gen\u00e9tica, Facultad de Enfermer\u00eda y Terapia Ocupacional, Universidad de Extremadura, 10003 C\u00e1ceres, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativa, Instituto de Salus Carlos III (CIBER-CIBERNED-ISCIII), 28029 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Extremadura (INUBE), 10003 C\u00e1ceres, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"G\u00f3mez-Suaga","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Gen\u00e9tica, Facultad de Enfermer\u00eda y Terapia Ocupacional, Universidad de Extremadura, 10003 C\u00e1ceres, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativa, Instituto de Salus Carlos III (CIBER-CIBERNED-ISCIII), 28029 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Extremadura (INUBE), 10003 C\u00e1ceres, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6910-2089","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Fuentes","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular y Gen\u00e9tica, Facultad de Enfermer\u00eda y Terapia Ocupacional, Universidad de Extremadura, 10003 C\u00e1ceres, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Neurodegenerativa, Instituto de Salus Carlos III (CIBER-CIBERNED-ISCIII), 28029 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Biosanitaria de Extremadura (INUBE), 10003 C\u00e1ceres, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","article-title":"Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome","volume":"252","author":"Oberle","year":"1991","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"Wilson","year":"1991","journal-title":"Nature"},{"key":"ref_3","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. 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