Uloga Ras proteina u razvoju feokromocitoma

undergraduate thesis

• Title (english): The role of Ras proteins in pheochromocytoma growth
• Author: Maja Kobeščak
• Mentor: Reno Hrašćan (mentor)
• Granter: University of Zagreb; Faculty of Food Technology and Biotechnology; (Department of Biochemical Engineering); (Laboratory for Biology and Microbial Genetics); Zagreb
• Defense date and country: 2019-09-18, Croatia
• Scientific / art field, discipline and subdiscipline: BIOTECHNICAL SCIENCES; Nutrition

Abstract

Feokromocitom je uglavnom benigni tumor kromafinih stanica nadbubrežne žlijezde. Klinička svojstva feokromocitoma pretežno su posljedica prekomjernog lučenja katekolamina, a povišeni krvni tlak najčešća je manifestacija. Razvoj feokromocitoma povezuje se s mutacijama na više od desetak gena. Najčešće se javlja kao posljedica somatskih genskih mutacija, a može biti nasljedan u slučaju embrionalnih mutacija. Ras geni su najčešći onkogeni u ljudskim tumorima. Točkaste mutacije dovode do sinteze Ras proteina bez mogućnosti inaktivacije što uzrokuje neprestanu aktivnost kaskada protein-kinaza aktiviranih mitogenom (MAPK) i signalnog puta fosfatidilinozitol-3-kinaze (PI3-K), zaduženih sa rast, proliferaciju, diferencijaciju i preživljavanje stanica. Mutacije H-Ras proteina otkrivene su u otprilike 7% sporadičnih oblika feokromocitoma. Onkogena aktivacija gena RET i NF1 također može uzrokovati amplifikaciju Ras posredovanih signalnih puteva i rezultirati promijenjenom ekspresijom gena.

Abstract (english)

Pheochromocytoma is mostly benign tumor of adrenal cromaffin cells. Clinical characteristics are mostly the consequence of excessive catecholamine secretion, mainly manifesting as high blood pressure. Pheochromocytoma tumorogenesis is connected with mutation in more than 10 genes. Mostly it is sporadic as result of somatic mutations of some genes, but it can be hereditary in case of germline mutations. Ras genes are the most common human oncogenes. Point mutations are causing synthesis of Ras protein unable to inactivate, leading to constant activation of mitogen-activated protein kinases cascade and phosphatidylinositol-3-kinase signal pathway which are in charge of cell growth, proliferation, differentiation and survival. Mutations of H-Ras protein are found in about 7% of all pheochormocytomas. Oncogenic activation of RET and NF1 genes can also cause amplification of signal pathways mediated by Ras protein and result in changed gene expression.

• Keywords: feokromocitom; gen NF1; mutacije; onkogen; Ras protein
• Keywords (english): mutations; NF1 gene; oncogene; pheochromocytoma; Ras protein
• Language: croatian
• URN:NBN: urn:nbn:hr:159:677266
• Study programme: Title: Nutrition; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) nutricionizma (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) nutricionizma)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2019-09-23 09:29:53