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Logopedija
Article . 2022 . Peer-reviewed
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Mucanje i genetika

Authors: Cvjetković Grginović, Tajana;

Mucanje i genetika

Abstract

Mucanje je neurorazvojni poremećaj složene etiologije, koja obuhvaća genetičke i okolinske komponente. Istraživanja pokazuju kako su u podlozi mucanja genetički faktori koji dovode do sklonosti mucanju, a ta sklonost se manifestira ako u okolini postoje umjereni okidači koji dovode do pojave mucanja (Rautakoski i sur., 2012). Prema istraživanjima, ako postoji mucanje unutar obiteljske anamneze, ono se može naslijediti - i s majčine i s očeve strane. Također, poznato je kako su dječaci skloniji razvoju mucanja u odnosu na djevojčice, indicirajući tako ulogu spola u početku, jakosti i nasljednosti mucanja. Gledajući samo obiteljsku anamnezu osobe koja muca, 70 % je moguće da je netko unutar obiteljskog stabla mucao. Kao dodatak tome idu u prilog teze iz istraživanja blizanaca. Istraživanje trojki pokazalo je višu razinu pojave mucanja kod jednojajčanih (20-90 %) u usporedbi s dvojajčanim blizancima (3-19 %) (WittkeThomson i sur., 2007). Utvrđena je povezanost 4 različita gena na nekoliko različitih kromosoma. Genetičke studije identificirale su varijante na genima GNPTAB, GNPTG, NAGPA i AP4E1, koje su povezane s pojavom mucanja (Devi i sur., 2021). Nadalje, dokazano je kako su neka perzistentna mucanja uzrokovana varijantama gena koji ne upravljaju govornim procesima, već metaboličkim putovima. Svi navedeni geni uključeni su u proces intracelularnog trgovanja, a deficiti u ovoj staničnoj funkciji su prepoznani kao uzročnici raznih neuroloških poremećaja (Frigerio-Domingues i sur., 2019). Neurološka perspektiva otkriva hiperaktivnost dopamina i abnormalnosti bijele tvari koje se uočavaju u mucanju, ukazujući na moguću neurokemijsku podlogu s još nejasnim mehanizmom djelovanja (Devi i sur., 2021).

Country
Croatia
Keywords

mucanje, genetika, metabolički putovi, bijela tvar

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Published in a Diamond OA journal