{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T18:23:56Z","timestamp":1790447036295,"version":"4.1.0"},"reference-count":59,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T00:00:00Z","timestamp":1743033600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto Nacional de Cardiologia Ignacio Chavez"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Marfan syndrome (MFS) is an inherited connective tissue disorder, with aortic root aneurysm and\/or dissection being the most severe and life-threatening complication. These conditions have been linked to pathogenic variants in the FBN1 gene and dysregulated TGF\u03b2 signaling. Our objective was to evaluate the mRNA expression of FBN1, TGFBR1, TGFBR2, and TGFB2 in aortic tissue from MFS patients undergoing surgery for aortic dilation. This prospective study (2014\u20132023) included 20 MFS patients diagnosed according to the 2010 Ghent criteria, who underwent surgery for aneurysm or dissection based on Heart Team recommendations, along with 20 non-MFS controls. RNA was extracted, and mRNA levels were quantified using RT-qPCR. Patients with dissection showed significantly higher FBN1 mRNA levels [79 (48.1\u2013110.1)] compared to controls [37.2 (25.1\u201379)] (p = 0.03). Conversely, TGFB2 expression was significantly lower in MFS patients [12.17 (6.54\u201324.70)] than in controls [44.29 (25.85\u201385.36)] (p = 0.029). A positive correlation was observed between higher FBN1 expression and a larger sinotubular junction diameter (r = 0.42, p = 0.07), while increased FBN1 expression was particularly evident in MFS patients with dissection. Additionally, TGFB2 expression showed an inverse correlation with ascending aortic diameter (r = 0.53, p = 0.01). In aortic tissue, we found decreased TGFB2 and receptor levels alongside increased FBN1 mRNA levels. These molecular alterations may reflect compensatory mechanisms in response to tissue damage caused by mechanical stress, leading to dysregulation of physiological signaling pathways and ultimately contributing to aortic dilation in MFS.<\/jats:p>","DOI":"10.3390\/ijms26073067","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T04:11:40Z","timestamp":1743135100000},"page":"3067","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Analysis of FBN1, TGF\u03b22, TGF\u03b2R1 and TGF\u03b2R2 mRNA as Key Molecular Mechanisms in the Damage of Aortic Aneurysm and Dissection in Marfan Syndrome"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1332-2888","authenticated-orcid":false,"given":"Mar\u00eda Elena","family":"Soto","sequence":"first","affiliation":[{"name":"Research Direction, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. Secci\u00f3n XVI, Mexico City 14080, Mexico"},{"name":"Cardiovascular Line in American British Cowdray (ABC) Medical Center, PAI ABC Sur 136 No. 16, Col. Las Am\u00e9ricas, Mexico City 01120, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrlene","family":"Rodr\u00edguez-Brito","sequence":"additional","affiliation":[{"name":"Cardiothoracic Surgery Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6510-2954","authenticated-orcid":false,"given":"Israel","family":"P\u00e9rez-Torres","sequence":"additional","affiliation":[{"name":"Cardiovascular Biomedicine Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valent\u00edn","family":"Herrera-Alarcon","sequence":"additional","affiliation":[{"name":"Cardiothoracic Surgery Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Humberto","family":"Mart\u00ednez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Cardiothoracic Surgery Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iv\u00e1n","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Cardiothoracic Surgery Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8518-6961","authenticated-orcid":false,"given":"Vicente","family":"Castrej\u00f3n-T\u00e9llez","sequence":"additional","affiliation":[{"name":"Physiology Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betsy Anaid","family":"Pe\u00f1a-Oca\u00f1a","sequence":"additional","affiliation":[{"name":"Biochemistry Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. Secci\u00f3n XVI, Mexico City 14080, Mexico"},{"name":"Tecnol\u00f3gico Nacional de M\u00e9xico, Instituto Tecnol\u00f3gico de Tuxtla Guti\u00e9rrez, Tuxtla Guti\u00e9rrez 29050, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Alvarez-Leon","sequence":"additional","affiliation":[{"name":"Sub-Directorate of Basic Research, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linaloe","family":"Manzano-Pech","sequence":"additional","affiliation":[{"name":"Cardiovascular Biomedicine Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9102-4240","authenticated-orcid":false,"given":"Ricardo","family":"Gamboa","sequence":"additional","affiliation":[{"name":"Physiology Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1819-8444","authenticated-orcid":false,"given":"Giovanny","family":"Fuentevilla-Alvarez","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6806-3484","authenticated-orcid":false,"given":"Claudia","family":"Huesca-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Physiology Department, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, Juan Badiano No. 1, Col. 4 Secci\u00f3n XVI, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/352337a0","article-title":"Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene","volume":"352","author":"Dietz","year":"1991","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am. 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