{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T19:20:57Z","timestamp":1790882457872,"version":"4.1.0"},"reference-count":81,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T00:00:00Z","timestamp":1740009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi Corporation","award":["SGZ-2020-12892"],"award-info":[{"award-number":["SGZ-2020-12892"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects. Males develop progressive hypertrophic cardiomyopathy (HCM) followed by fibrosis; females develop nonconcentric hypertrophy and\/or early fibrosis. The inflammatory response to Gb3\/lyso-Gb-3 accumulation is one of the suggested pathogenic mechanisms in FD cardiomyopathy when the secretion of inflammatory and transforming growth factors with infiltration of lymphocytes and macrophages into tissue promotes cardiofibrosis. This study aims to evaluate inflammation-driving cytokines and cardio-hypertrophic remodeling biomarkers contributing to sex-specific HCM progression. Biomarkers were studied in 20 healthy subjects and 45 FD patients. IL-2, IL-10, TNF-\u03b1, and IFN-\u03b3 were elevated in all patients, while IL-1\u03b1, MCP-1, and TNFR2 showed sex-specific differences. The increased cytokines were associated with the NF-kB pathway in FD males with HCM, revealing a correlation between MCP-1, IFN-\u03b3, VEGF, GM-CSF, IL-10, and IL-2. In female patients, the impaired TNF\u03b1\/TNFR2\/TGF\u03b2 cluster with correlations to MCP-1, VEGF, GM-CSF, and IL-1\u03b1 was observed. The activation of cytokines and the NF-kB pathway indicates significant inflammation during HCM remodeling in FD males. The TNF\u03b1\/TNFR2\/TGF\u03b2 signaling cluster may explain early fibrosis in females with FD cardiomyopathy. Sex-specific inflammatory responses in FD influence the severity and progression of HCM.<\/jats:p>","DOI":"10.3390\/cells14050322","type":"journal-article","created":{"date-parts":[[2025,2,20]],"date-time":"2025-02-20T11:03:37Z","timestamp":1740049417000},"page":"322","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-8606","authenticated-orcid":false,"given":"Margarita M.","family":"Ivanova","sequence":"first","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Dao","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Friedman","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Kasaci","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4758-6793","authenticated-orcid":false,"given":"Ozlem","family":"Goker-Alpan","sequence":"additional","affiliation":[{"name":"Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1007\/BF03402156","article-title":"Fabry disease: Twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes","volume":"8","author":"Germain","year":"2002","journal-title":"Mol. 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