{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T04:51:22Z","timestamp":1777092682639,"version":"3.51.4"},"reference-count":193,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:00:00Z","timestamp":1776902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Associazione Italiana Ricerca sull\u2019anemia di Fanconi ODV\u2014AIRFA","award":["AIRFA2019"],"award-info":[{"award-number":["AIRFA2019"]}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["5XMILR1"],"award-info":[{"award-number":["5XMILR1"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Fanconi anemia (FA) is a rare inherited disorder classically defined by defective DNA interstrand crosslink repair, leading to bone marrow failure and cancer predisposition. Increasing evidence indicates that FA pathophysiology extends beyond genomic instability to include mitochondrial dysfunction, oxidative stress, and impaired antioxidant responses. Across multiple cellular models and patient-derived samples, FA cells display altered mitochondrial bioenergetics, increased reactive oxygen species (ROS) production, and defective activation of redox-adaptive pathways, contributing to cumulative damage to DNA, lipids, and proteins. These alterations are particularly relevant in hematopoietic stem and progenitor cells, where metabolic stress and redox imbalance amplify stem cell exhaustion. Current data support a bidirectional interplay in which mitochondrial dysfunction and oxidative stress act mainly as secondary but amplifying factors of the primary DNA repair defect, establishing pathogenic feedback loops. Preclinical studies suggest that modulation of redox balance and mitochondrial function may improve cellular homeostasis, and early clinical investigations of antioxidant strategies indicate acceptable safety and measurable effects on oxidative biomarkers. However, clinical evidence remains limited and heterogeneous, with uncertain impact on long-term disease progression. Moreover, most mechanistic insights derive from in vitro or patient-derived models, while animal models and longitudinal clinical studies remain insufficient. Overall, a more integrated and translational framework is needed to clarify causality, validate biomarkers, and define the therapeutic potential of targeting metabolic and redox pathways in FA.<\/jats:p>","DOI":"10.3390\/cells15090753","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T10:10:17Z","timestamp":1776939017000},"page":"753","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Fanconi Anemia: Interplay Between DNA Repair Defects, Mitochondrial Dysfunction, and Oxidative Stress"],"prefix":"10.3390","volume":"15","author":[{"given":"Giorgia","family":"Damonte","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Via De Toni 14, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde","family":"Balbi","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Via De Toni 14, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0494-7942","authenticated-orcid":false,"given":"Andrea","family":"Amaroli","sequence":"additional","affiliation":[{"name":"BIO-Photonics Overarching Research Laboratory (BIOPHOR), Department of Earth, Environmental and Life Sciences (DISTAV), University of Genoa, 16132 Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7302-7429","authenticated-orcid":false,"given":"Vanessa","family":"Cossu","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Via De Toni 14, 16132 Genova, Italy"},{"name":"IRCCS Azienda Ospedaliera Metropolitana, Largo Rosanna Benzi 10, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6261-1128","authenticated-orcid":false,"given":"Isabella","family":"Panfoli","sequence":"additional","affiliation":[{"name":"Department of Pharmacy\u2014(DIFAR), University of Genoa, Viale Benedetto XV 3, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Cappelli","sequence":"additional","affiliation":[{"name":"Hematology Unit, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16148 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0803-1042","authenticated-orcid":false,"given":"Silvia","family":"Ravera","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of Genoa, Via De Toni 14, 16132 Genova, Italy"},{"name":"IRCCS Azienda Ospedaliera Metropolitana, Largo Rosanna Benzi 10, 16132 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.blre.2016.10.002","article-title":"Recent Discoveries in the Molecular Pathogenesis of the Inherited Bone Marrow Failure Syndrome Fanconi Anemia","volume":"31","author":"Mamrak","year":"2017","journal-title":"Blood Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1002\/em.22358","article-title":"Fanconi Anemia and the Underlying Causes of Genomic Instability","volume":"61","author":"Rageul","year":"2020","journal-title":"Environ. 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