Uloga kodirajućih i nekodirajućih DNA regija u razvoju genetskih poremećaja

Maja Oroz; Feodora Stipoljev; Ana  Mustapić; Tamara Vuk

doi:10.13112/pc.1047

Autor(i)

Maja Oroz Odjel za laboratorijsku citogenetiku, Klinika za ginekologiju i porodništvo, Klinička bolnica “Sveti Duh”, Zagreb, Sveti Duh 64, 10000 Zagreb
Feodora Stipoljev Odjel za laboratorijsku citogenetiku, Klinika za ginekologiju i porodništvo, Klinička bolnica “Sveti Duh”, Zagreb, Sveti Duh 64, 10000 Zagreb
Ana Mustapić Odjel za laboratorijsku citogenetiku, Klinika za ginekologiju i porodništvo, Klinička bolnica “Sveti Duh”, Zagreb, Sveti Duh 64, 10000 Zagreb
Tamara Vuk Odjel za laboratorijsku citogenetiku, Klinika za ginekologiju i porodništvo, Klinička bolnica “Sveti Duh”, Zagreb, Sveti Duh 64, 10000 Zagreb

DOI:

https://doi.org/10.13112/pc.1047

Ključne riječi:

GENETIČKE BOLESTI, UROĐENE, INTRONI, EGZONI, STRUKTURE KROMOSOMA

Sažetak

Cilj: Ovaj pregledni članak analizira ulogu kodirajućih i nekodirajućih regija ljudskog genoma u razvoju genetskih poremećaja, s posebnim naglaskom na različite tipove genetskih varijanti i mehanizme njihovog djelovanja.

Metode: Provedena je detaljna analiza dostupne znanstvene literature koja se bavi utjecajem varijanti pojedinačnih nukleotida, insercija, delecija i varijanti broja kopija u kodirajućim i nekodirajućim regijama genoma. Posebna pažnja posvećena je mehanizmima poput promjena u strukturi i funkciji proteina, regulaciji ekspresije gena te utjecaju na stabilnost mRNA.

Rezultati: Kodirajuće varijante, uključujući sinonimne, besmislene i pogrešne varijante, mogu značajno utjecati na strukturu, funkciju i stabilnost proteina, što dovodi do različitih genetskih poremećaja. Nekodirajuće varijante, smještene u cis i trans regulatornim elementima, igraju ključnu ulogu u regulaciji ekspresije gena, organizaciji i stabilizaciji genoma. Varijante u nekodirajućim regijama mogu utjecati na prekrajanje gena, transkripciju, translaciju te stabilnost RNA, što također može rezultirati patološkim stanjima.

Zaključak: Razumijevanje utjecaja genetskih varijanti u kodirajućim i nekodirajućim regijama genoma ključno je za bolje razumijevanje mehanizama patogeneze i genetske osnove brojnih bolesti. Uključivanje nekodirajućih varijanti u istraživanja može doprinijeti poboljšanju dijagnostičkih i terapijskih pristupa u medicini.

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