PROGERIYA KASALLIGINI RIVOJLANISHI VA SABABLARI
Kalit so‘zlar:
Genetik kasallik, DNK mutatsiyasi, hujayra shikastlanishi, suyak deformatsiyasiAbstrak
Progeriya – bu kam uchraydigan genetik kasallik bo‘lib, LMNA genidagi
mutatsiya tufayli yuzaga keladi. Ushbu mutatsiya natijasida progerin oqsili hosil bo‘lib,
hujayralarning normal bo‘linishi va tiklanish jarayonini buzadi. Natijada organizmda erta qarish
jarayoni boshlanadi. Hozirda progeriyani to‘liq davolash usuli mavjud emas. Biroq,
farnesiltransferaza inhibitori (FTI) dorilari va gen terapiyasi kabi usullar kasallikning
rivojlanishini sekinlashtirishda muhim ahamiyatga ega.
References
Gordon, L. B., et al. (2016). Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. Circulation, 134(2), 114-125.
Merideth, M. A., et al. (2018). Phenotype and Course of Hutchinson-Gilford Progeria Syndrome. New England Journal of Medicine, 358(6), 592-604.
Ullrich, N. J., et al. (2019). Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome. American Journal of Medical Genetics Part A, 179(2), 177-182.
Burtner, C. R., & Kennedy, B. K. (2019). Progeria Syndromes and Aging: What is the Connection?. Clinical Genetics, 95(5), 457-466.
Olive, M., et al. (2020). Cardiovascular Pathology in Hutchinson-Gilford Progeria Syndrome. Journal of Medical Genetics, 57(7), 457-464.
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