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undergraduate thesis
Marfanov sindrom - autosomalno dominantna nasljedna bolest
2023. urn:nbn:hr:166:534833
Popović, Ana
University of Split
Faculty of Science
Department of Biology

Cite this document

Popović, A. (2023). Marfanov sindrom - autosomalno dominantna nasljedna bolest (Undergraduate thesis). Split: University of Split, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:166:534833

Popović, Ana. "Marfanov sindrom - autosomalno dominantna nasljedna bolest." Undergraduate thesis, University of Split, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:166:534833

Popović, Ana. "Marfanov sindrom - autosomalno dominantna nasljedna bolest." Undergraduate thesis, University of Split, Faculty of Science, 2023. https://urn.nsk.hr/urn:nbn:hr:166:534833

Popović, A. (2023). 'Marfanov sindrom - autosomalno dominantna nasljedna bolest', Undergraduate thesis, University of Split, Faculty of Science, accessed 15 April 2024, https://urn.nsk.hr/urn:nbn:hr:166:534833

Popović A. Marfanov sindrom - autosomalno dominantna nasljedna bolest [Undergraduate thesis]. Split: University of Split, Faculty of Science; 2023 [cited 2024 April 15] Available at: https://urn.nsk.hr/urn:nbn:hr:166:534833

A. Popović, "Marfanov sindrom - autosomalno dominantna nasljedna bolest", Undergraduate thesis, University of Split, Faculty of Science, Split, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:166:534833

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Metadata
TitleMarfanov sindrom - autosomalno dominantna nasljedna bolest
Title (english)Marfan syndrome - autosomal-dominant disease
AuthorAna Popović
MentorŽeljana Fredotović (mentor)
Committee memberŽeljana Fredotović (predsjednik povjerenstva)
Committee memberSanja Puljas (član povjerenstva)
Committee memberElma Vuko (član povjerenstva)
GranterUniversity of Split
Faculty of Science
(Department of Biology)
Split
Defense date and country2023-09-12, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Marfanov sindrom je rijetka autosomalno dominantna nasljedna bolest vezivnog tkiva koja najčešće pogađa kardiovaskularni, očni i skeletni sustav. Najveći broj slučajeva uzrokovan je mutacijama u genu FBN1 koji kodira glikoprotein fibrilin 1 (FBN1) koji sudjeluje u formiranju mikrofibrila. Osim gena FBN1, dokazano je da postoje i drugi geni koji pridonose razvoju Marfanovog sindroma kao što su FBN2, TGFBR1, TGFBR2 te LTBP. Mutacije se mogu pojaviti u bilo kojem dijelu ljudskog genoma, te se za pravilno dijagnosticiranje promjena koriste metode poput sekvenciranja cijelog genoma (WGS), sekvenciranja cijelog egzoma (WES), ciljanog sekvenciranja genoma (TGS) te metoda višestrukog umnožavanja vezanih sondi (MLPA). Lijek za sindrom još uvijek ne postoji, pa se liječenje svodi na tretiranje i ublažavanje postojećih simptoma. Genska terapija mogla bi biti novi put u liječenju sindroma, ali su potrebne daljnje studije kako bi se poboljšao prijenos gena.
Abstract (english)
Marfan syndrome is a rare, autosomal-dominant inherited connective tissue disorder that most commonly affects the cardiovascular, ocular, and skeletal systems. Most cases are caused by mutations in the FBN1 gene, which encodes the glycoprotein fibrillin 1 (FBN1) and is involved in the formation of microfibrils. In addition to the FBN1 gene, there are other genes that have been shown to contribute to the development of Marfan syndrome: FBN2, TGFBR1, TGFBR2, and LTBP. Mutations can occur in any part of the human genome, and methods such as whole genome sequencing (WGS), whole exome sequencing (WES), targeted genome sequencing (TGS), and multiplexed probe amplification (MLPA) are used to correctly diagnose alterations. There is still no cure for the syndrome, so treatment is limited to treating and alleviating existing symptoms. Gene therapy could be a new way to treat the syndrome, but further studies are needed to improve gene transfer.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:166:534833
Study programmeTitle: Biology
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2023-09-18 12:44:30