{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T02:45:18Z","timestamp":1771641918731,"version":"3.50.1"},"reference-count":36,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Hungarian Ministry of Innovation and Technology","award":["TKP-2021-EGA-10"],"award-info":[{"award-number":["TKP-2021-EGA-10"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Competitive athletes are often exposed to extreme physiological loading, resulting in over excessive mechanotransduction during their acute intensive training sessions and competitions. Individual differences in their genetics often affect how they cope with these challenges, as reflected in their high performances. Olympic Medalists are prohibited from providing atypical values in the Hematological Module of the Athlete Biological Passport. Since there was no aphysiological result and the Athlete maintained his innocence, a whole genome sequence analysis was carried out on him and his parents, with the primary focus on the PIEZO ion channels encoding gene. PIEZO1 is known to participate in homeostatic regulation even on a whole-body level, including the regulation of physical performance, circulatory longevity of red blood cells and cell fate determination of mesenchymal stem cells in relation to hydrostatic pressure. However, PIEZO2 was found to be the principal mechanosensory ion channel for proprioception. These regulatory mechanisms play a pivotal role in mechanotransduction and intensive exercise moments. Interestingly, two variances of uncertain significance of PIEZO1 were found that may explain the atypical values of the Athlete. Furthermore, two additional variances in SDC2, the syndcan-2 encoding gene, were identified in trans position that may influence the crosstalk between PIEZO2 and PIEZO1, with more likely relevance to the detected atypical values. After all, based on the found variances of PIEZO1 and syndecan-2, it cannot be ruled out that these VUS variants may have caused or impacted the exhibited outlier findings of the ABP Hematological Module of the Athlete.<\/jats:p>","DOI":"10.3390\/ijms252111842","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T09:52:54Z","timestamp":1730713974000},"page":"11842","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prohibited Olympic Medalist with PIEZO1 VUS Who Claims Innocence"],"prefix":"10.3390","volume":"25","author":[{"given":"Bal\u00e1zs","family":"Sonkodi","sequence":"first","affiliation":[{"name":"Department of Health Sciences and Sport Medicine, Hungarian University of Sports Science, 1123 Budapest, Hungary"},{"name":"Department of Sports Medicine, Semmelweis University, 1122 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00edmea","family":"Kov\u00e1ts","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Sport Medicine, Hungarian University of Sports Science, 1123 Budapest, Hungary"},{"name":"Department of Sports Medicine, Semmelweis University, 1122 Budapest, Hungary"},{"name":"Hungarian Swimming Federation, 1007 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3949-7005","authenticated-orcid":false,"given":"Bence","family":"G\u00e1lik","sequence":"additional","affiliation":[{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rton","family":"Tompa","sequence":"additional","affiliation":[{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4043-3428","authenticated-orcid":false,"given":"P\u00e9ter","family":"Urb\u00e1n","sequence":"additional","affiliation":[{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6476-1181","authenticated-orcid":false,"given":"Zs\u00f3fia Fl\u00f3ra","family":"Nagy","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1123 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pongr\u00e1c","family":"\u00c1cs","sequence":"additional","affiliation":[{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"},{"name":"Faculty of Health Sciences, Institute of Physiotherapy and Sport Science, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikl\u00f3s","family":"T\u00f3th","sequence":"additional","affiliation":[{"name":"Department of Health Sciences and Sport Medicine, Hungarian University of Sports Science, 1123 Budapest, Hungary"},{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"},{"name":"Faculty of Health Sciences, Institute of Physiotherapy and Sport Science, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"},{"name":"Institute of Laboratory Medicine, Semmelweis University, 1123 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Gyenesei","sequence":"additional","affiliation":[{"name":"Szent\u00e1gothai Research Center, University of P\u00e9cs, 7622 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Krumm, B., Botre, F., Saugy, J.J., and Faiss, R. 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