{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T13:24:15Z","timestamp":1791638655499,"version":"4.3.4"},"reference-count":54,"publisher":"Akademiai Kiado Zrt.","issue":"19","license":[{"start":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T00:00:00Z","timestamp":1778371200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Eur\u00f3pai Uni\u00f3 Horizon 2020 kutat\u00e1si \u00e9s innov\u00e1ci\u00f3s program","award":["2019-2.1.7-ERANET-2020-0001"],"award-info":[{"award-number":["2019-2.1.7-ERANET-2020-0001"]}]}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2026,5,10]]},"abstract":"\n Az aktin-cytoskeleton \u00e1trendez\u0151d\u00e9se sz\u00e1mos \u00e9lettani folyamatban j\u00e1tszik fontos\n szerepet. Az aktin, illetve az aktink\u00f6t\u0151 feh\u00e9rj\u00e9k mut\u00e1ci\u00f3i betegs\u00e9gek sz\u00e9les\n spektrum\u00e1t fedik le, amelyeket \u00f6sszefoglal\u00f3 n\u00e9ven aktinop\u00e1ti\u00e1knak nevez\u00fcnk. A\n hat aktinizoforma k\u00f6z\u00fcl a cytoskeletalis \u03b2- \u00e9s \u03b3-aktin izoform\u00e1k mind\u00f6ssze n\u00e9gy\n aminosavban t\u00e9rnek el egym\u00e1st\u00f3l. Ez azt eredm\u00e9nyezi, hogy vannak \u00e1tfed\u0151, illetve\n izoforma-specifikus funkci\u00f3ik is. Az\n ACTB<\/jats:italic>\n \u00e9s\n ACTG1<\/jats:italic>\n g\u00e9nek mut\u00e1ci\u00f3it ritka betegs\u00e9gekkel, \u00fan. nem izom\n aktinop\u00e1ti\u00e1kkal (NMA) hozt\u00e1k \u00f6sszef\u00fcgg\u00e9sbe. Az \u00e9rintettek fenot\u00edpusa sz\u00e9les\n klinikai spektrumot fed le \u2013 a t\u00fcnetmentes vari\u00e1nsokt\u00f3l a s\u00falyos \u00e9rtelmi\n fogyat\u00e9koss\u00e1ggal \u00e9s szervi elv\u00e1ltoz\u00e1sokkal j\u00e1r\u00f3 mut\u00e1ci\u00f3kig \u2013, ez \u00f6sszef\u00fcgg a\n konkr\u00e9t\n ACTB-<\/jats:italic>\n vagy\n ACTG1<\/jats:italic>\n -vari\u00e1nssal. A\n leg\u00fajabb kutat\u00e1sok, a betegek adatb\u00e1zis\u00e1t figyelembe v\u00e9ve a klinikai fenot\u00edpus\n \u00e9s a biok\u00e9miai adatok \u00f6sszevet\u00e9s\u00e9vel, a genot\u00edpus\u2013klinikai fenot\u00edpus\u2013molekul\u00e1ris\n mechanizmus kapcsolat alapj\u00e1n a k\u00fcl\u00f6nb\u00f6z\u0151 NMA-khoz kapcsolhat\u00f3 mut\u00e1ci\u00f3k\n csoportos\u00edt\u00e1s\u00e1t k\u00eds\u00e9relt\u00e9k meg. Mindezek alapj\u00e1n a Baraitser\u2013Winter\n cerebrofrontofacialis szindr\u00f3m\u00e1s (BWCFF) betegek alkotj\u00e1k az egyik (legs\u00falyosabb\n t\u00fcnetekkel rendelkez\u0151) csoportot, amelybe a jellegzetes arcdysmorphi\u00e1val \u00e9s\n frontalis pachygyri\u00e1val diagnosztiz\u00e1lt betegek sorolhat\u00f3k. E mut\u00e1ci\u00f3k\n molekul\u00e1ris mechanizmusa alapj\u00e1n az aktinfilamentum dinamik\u00e1ja \u00e9rintett. Az\n ACTB<\/jats:italic>\n pLoF (predicted loss-of-function) rendelleness\u00e9ggel\n diagnosztiz\u00e1lt csoportba tartoz\u00f3 betegek a BWCFF-csoporthoz k\u00e9pest elt\u00e9r\u0151, de a\n csoportra jellemz\u0151 arcdysmorphi\u00e1t mutatnak, enyhe fejl\u0151d\u00e9si rendelleness\u00e9ggel \u00e9s\n immunol\u00f3giai t\u00fcnetekkel. Ezek a mut\u00e1ci\u00f3k molekul\u00e1ris szinten a feh\u00e9rje cs\u00f6kkent\n expresszi\u00f3j\u00e1hoz vagy cs\u00f6kkent stabilit\u00e1s\u00e1hoz vezetnek. A t\u00f6bbi betegcsoport\n klinikai szinten elt\u00e9r\u0151 fenot\u00edpust mutat, amelyekhez \u2013 jelenlegi tud\u00e1sunk\n szerint \u2013 specifikus molekul\u00e1ris mechanizmust nem azonos\u00edtottak. Ebben az\n \u00f6sszefoglal\u00f3ban \u00e1tfog\u00f3 k\u00e9pet k\u00edv\u00e1nunk adni a genot\u00edpus\u2013klinikai\n fenot\u00edpus\u2013molekul\u00e1ris mechanizmus kapcsolat\u00e1r\u00f3l, r\u00e9szletezve az eddig le\u00edrt\n klinikai vari\u00e1nsok molekul\u00e1ris h\u00e1tter\u00e9t, \u00e9rintve az aktin izoforma-specifikus\n k\u00fcl\u00f6nbs\u00e9geit, valamint felv\u00e1zoljuk a j\u00f6v\u0151beli kutat\u00e1si ir\u00e1nyokat. Orv Hetil.\n 2026; 167(19): 731\u2013739.\n <\/jats:p>","DOI":"10.1556\/650.2026.33533","type":"journal-article","created":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T01:41:24Z","timestamp":1778463684000},"page":"731-739","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":1,"title":["Ritka betegs\u00e9gekhez kapcsolhat\u00f3 cytoskeletalis aktin mut\u00e1ci\u00f3k \u00e1ttekint\u00e9se"],"prefix":"10.1556","volume":"167","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1591-951X","authenticated-orcid":true,"given":"Kira","family":"Dakos","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, Biofizikai \u00e9s Sug\u00e1rbiol\u00f3giai Int\u00e9zet Budapest, T\u0171zolt\u00f3 u. 37\u201347., 1094 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Varga","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, Biofizikai \u00e9s Sug\u00e1rbiol\u00f3giai Int\u00e9zet Budapest, T\u0171zolt\u00f3 u. 37\u201347., 1094 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Vandekerckhove J, Weber K. 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