MUTASI GENETIK PADA KASUS GAGAP: STUDI PUSTAKA
Abstract
Gagap (stuttering) adalah suatu gangguan dalam berbicara yang ditandai dengan terjadinya pengulangan atau perpanjangan dan penghentian bunyi atau suku kata. Gagap dapat diderita oleh segala usia, terutama pada usia anak-anak (developmental stuttering) yang dapat menyebabkan gangguan kefasihan dan keterlambatan dalam hal berbicara. Insiden seseorang pernah mengalami gagap dalam hidupnya adalah sekitar 5% populasi dunia atau sekitar 60 juta orang. Studi menunjukkan terdapat beberapa gen yang berkaitan dengan terjadinya gagap. Mutasi pada gen tersebut merupakan faktor risiko gagap di kemudian hari. Studi Pustaka ini akan membahas mutasi genetik pada gagap dalam 4 bagian,yaitu (a) klasifikasi, (b) prevalensi, (c) patofisiologi, dan (d) etiologi. Sebagai kesimpulan, pada penderita gagap, gen yang mengalami mutasi, yaitu gen GNPTAB (kromosom 12q), GNPTG (kromosom 16p13.3), NAGPA (kromosom 16p.13.3), AP4E1 (kromosom 15q21.2), gen SLC6A3 (kromosom 5p15.3), dan DRD2 (kromosom 15q23), gen CYP17 dan CYP19 (kromosom 10q). Dari mutasi pada gen tersebut, yang paling sering ditemukan adalah mutasi pada gen GNPTAB, GNPTG, dan NAGPA. Perbedaan mutasi yang ditemukan dipengaruhi oleh perbedaan populasi dan besar sampel yang diteliti. Selain faktor genetik, terdapat faktor nongenetik sebagai faktor risiko gagap. Diperlukan penelitian untuk mengetahui mutasi gen pada kasus gagap di Indonesia, dan faktor yang memengaruhi ekspresi gen tersebut.
Kata kunci: gagap, gen, mutasi
References
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21.Raza, MH., Amjad, R., Riazuddin, S., Drayna, D. (2012). Studies in a Consanguineous Family Reveal a Novel Locus for Stuttering on Chromosome 16q. Springer. 131(4), pp.311-313. DOI 10.1007/s00439-011-1134-2
22. Rautakoski P, Hannus T, Simberg S, Sandnabba NK, Santtila P. Genetic and environmental effects on stuttering: A twin study from Finland. J Fluency Disord. 2012;37(3):202–10. Available from: http://dx.doi.org/10.1016/j.jfludis.2011.12.003
23.Nang, C. Hersh, D., Milton, K., Lau, SR. (2018) ‘The Impact of Stuttering on Development of Self-Identity, Relationships, and Quality of Life in Women who Stutter’, American Journal of Speech-Language Pathology, 27(3S), pp. 1244–1258. DOI: 10.1044/2018_AJSLP-ODC11-17-0201
24.Smith, A. and Weber, C. (2016) ‘Childhood Stuttering: Where Are We and Where Are We Going?’, Seminars in Speech and Language, 37(4), pp. 291–297. doi: 10.1055/s-0036-1587703.
25.Selçuk EB, Erbay LG, Özcan ÖÖ, Kartalcı Ş, Batcıo Ğ Lu K. Testosterone levels of children with a diagnosis of developmental stuttering. Ther Clin Risk Manag. 2015;11:793–8.
26.Nnamani, A. Akabogu, J., Otu, MS., Okuha, E., Bethels, AC., Omile, JC., Obiezu, MN., Dike, AE., Ike, CV., Iyekekpolor, OM. (2019) ‘Cognitive behaviour language therapy for speech anxiety among stuttering school adolescents’, Journal of International Medical Research, 47(7), pp. 3109–3114. doi: 10.1177/0300060519853387.
27. Montag C, Bleek B, Breuer S, Prüss H, Richardt K, Cook S, et al. Prenatal testosterone and stuttering. Early Hum Dev. 2015;91(1):43–6. Available from: http://dx.doi.org/10.1016/j.earlhumdev.2014.11.003
2. Kang C, Drayna D. Genetics of speech and language disorders. Annu Rev Genomics Hum Genet. 2011;12:145–64.
3. Sari H, Gökdağ H. An analysis of difficulties of children with stuttering enrolled in Turkish primary inclusive classes who encounter in academic and social activities: From their perspectives. J Educ Pract [Internet]. 2017;8(2):31–43. Available from: www.asha.org
4. Smith A, Weber C. Childhood Stuttering: Where Are We and Where Are We Going? Semin Speech Lang. 2016;37(4):291–7.
5. Nouri N, Nouri N, Abdali H, Shafie M, Karimi H. Stuttering: Genetic updates and a case report. Adv Biomed Res. 2012;1(1):14.
6. Abou Ella M, Saleh M, Habil I, El Sawy M, El Assal L. Prevalence of stuttering in primary school children in Cairo-Egypt. Int J Speech Lang Pathol. 2015;17(4):367–72.
7. Oliveira CMC, Nogueira PR. Prevalence of risk factors for stuttering among boys: analytical cross-sectional study. Sao Paulo Med J. 2014;132(3):152-7.
8. Smith A, Weber C. How stuttering develops: The multifactorial dynamic pathways theory. J Speech, Lang Hear Res. 2017;60(9):2483–505.
9. Felsenfeld S, Kirk KM, Zhu G, Statham DJ, Neale MC, Martin NG. A study of the genetic and environmental etiology of stuttering in a selected twin sample. Behav Genet. 2000;30(5):359–66.
10. Ajdacic-Gross V, Vetter S, Müller M, Kawohl W, Frey F, Lupi G, et al. Risk factors for stuttering: A secondary analysis of a large data base. Eur Arch Psychiatry Clin Neurosci. 2010;260(4):279–86.
11. Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox NJ, et al. Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet. 2005;76(4):647–51.
12. Drayna D, Kang C. Genetic approaches to understanding the causes of stuttering: the current evidence. J Neurodevelop Disord. 2011;3(4):374-80.
13. Frigerio-Domingues, C. and Drayna, D. Genetic contributions to stuttering: the current evidence. Molecular Genetics and Genomic Medicine, 2017;5(2):95-102.
14. Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, et al. Mutations in the Lysosomal enzyme-targeting Pathway and Persistent Stuttering. N Engl J Med. 2010;362(8):677–3685.
15. NCBI SLC6A3 Gene: Solute Carrier Family 6 Member 3 [Homo Sapiens(Human)]. ncbi.nlm.nih.gov.
16. Lan J, Song M, Pan C, Zhuang G, Wang Y, Ma W, et al. Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese. J Hum Genet. 2009;54(8):457–60. Available from: http://dx.doi.org/10.1038/jhg.2009.60
17. Doehring, A., Kirchhof, A. and Lötsch, J. (2009) ‘Genetic diagnostics of functional variants of the human dopamine D2 receptor gene’, Plastic Surgical Nursing, 19(5), pp. 259–268. doi:10.1097/YPG.0b013e32832d0941.
18. Chace, C., Pang, Deborah, Weng, C., Temkin, A., Lax, S., Silverman, W., Zigman, W., Ferin, M., Lee, JH., Tycko, B., Schupf, N. (2012). Variants in CYP17 and CYP19 Cytochrome P450 Genes are Associated with Onset of Alzheimer's Diseasein Women with Down Syndrome. NIH publisher. 28(3), pp.1-8. doi:10.3233/JAD-2011-110860
19. Mohammadi H, Joghataei MT, Rahimi Z, Faghihi F, Khazaie H, Farhangdoost H, et al. Sex steroid hormones and sex hormone binding globulin levels, CYP17 MSP AI (−34 T:C) and CYP19 codon 39 (Trp:Arg) variants in children with developmental stuttering. Brain and Language. 2017;175(February):47–56. Available from: http://dx.doi.org/10.1016/j.bandl.2017.09.004
20.Raza, MH., Riazuddin, S., Drayna, D. (2010). Identification of an Autosomal Recessive Stuttering Locus on Chromosome 3q13.2-3q13.33. Springer. 128(2). pp.461-463. DOI 10.1007/s00439-010-0871-y
21.Raza, MH., Amjad, R., Riazuddin, S., Drayna, D. (2012). Studies in a Consanguineous Family Reveal a Novel Locus for Stuttering on Chromosome 16q. Springer. 131(4), pp.311-313. DOI 10.1007/s00439-011-1134-2
22. Rautakoski P, Hannus T, Simberg S, Sandnabba NK, Santtila P. Genetic and environmental effects on stuttering: A twin study from Finland. J Fluency Disord. 2012;37(3):202–10. Available from: http://dx.doi.org/10.1016/j.jfludis.2011.12.003
23.Nang, C. Hersh, D., Milton, K., Lau, SR. (2018) ‘The Impact of Stuttering on Development of Self-Identity, Relationships, and Quality of Life in Women who Stutter’, American Journal of Speech-Language Pathology, 27(3S), pp. 1244–1258. DOI: 10.1044/2018_AJSLP-ODC11-17-0201
24.Smith, A. and Weber, C. (2016) ‘Childhood Stuttering: Where Are We and Where Are We Going?’, Seminars in Speech and Language, 37(4), pp. 291–297. doi: 10.1055/s-0036-1587703.
25.Selçuk EB, Erbay LG, Özcan ÖÖ, Kartalcı Ş, Batcıo Ğ Lu K. Testosterone levels of children with a diagnosis of developmental stuttering. Ther Clin Risk Manag. 2015;11:793–8.
26.Nnamani, A. Akabogu, J., Otu, MS., Okuha, E., Bethels, AC., Omile, JC., Obiezu, MN., Dike, AE., Ike, CV., Iyekekpolor, OM. (2019) ‘Cognitive behaviour language therapy for speech anxiety among stuttering school adolescents’, Journal of International Medical Research, 47(7), pp. 3109–3114. doi: 10.1177/0300060519853387.
27. Montag C, Bleek B, Breuer S, Prüss H, Richardt K, Cook S, et al. Prenatal testosterone and stuttering. Early Hum Dev. 2015;91(1):43–6. Available from: http://dx.doi.org/10.1016/j.earlhumdev.2014.11.003
Published
2022-12-31
How to Cite
BAGUS SUASTIKA, Komang Ari; WULANDARI, Retno Dwi.
MUTASI GENETIK PADA KASUS GAGAP: STUDI PUSTAKA.
Medika Kartika : Jurnal Kedokteran dan Kesehatan, [S.l.], v. 5, n. 4, p. 424-435, dec. 2022.
ISSN 2655-6537.
Available at: <http://medikakartika.unjani.ac.id/medikakartika/index.php/mk/article/view/316>. Date accessed: 25 apr. 2024.
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