Access restricted to higher education institution's students and staff
master's thesis
Uloga genetike u moždanom udaru

Marija Debelić (2016)
Metadata
TitleUloga genetike u moždanom udaru
AuthorMarija Debelić
Mentor(s)Lidija Tuškan-Mohar (thesis advisor)
Abstract
Moždani udar je klinički sindrom vaskularne etiologije karakteriziran kao naglo nastali žarišni ili globalni neurološki deficit s trajanjem duljim od 24 sata ili koji završava smrtno. Prema mehanizmu nastanka razlikujemo ishemijski i hemoragijski. Konvencionalni čimbenici – promjenjivi i nepromjenjivi, čine 50% rizičnih čimbenika, dok preostali dio čine genetski čimbenici, u okviru monogenskih ili poligenskih poremećaja. U nekim monogenskim poremećajima povezanim s MU, MU se može javiti kao jedna od mogućih manifestacija sindroma koji zahvaća više organskih sustava, dok drugi mogu izazivati simptome samo u središnjem živčanom sustavu. Neki od takvih poremećaja su CADASIL, CARASIL, RVCL, Fabryjeva bolest, srpasta anemija, MELAS i moyamoya. Poligenski poremećaji nastaju kao rezultat mutacija više gena uz utjecaj okolišnih čimbenika. Studije gena „kandidata“ utvrdile su značajnu povezanost povećanog rizika od MU s mutacijama gena za MTHFR, ACE faktor, apo E, faktor V Leiden i gena za protrombin, dok su „linkage“ studije provedene na islandskoj populaciji pokazale povezanost MU s mutacijama na kromosomskim regijama koje uključuju regiju za PDE4D i ALOX5AP. Danas su nam, za razumjevanje genetike MU, od velike važnosti GWAS studije, koje se koriste tehnikama molekularne genetike, i povezuju povećani rizik od razvoja MU s postojanjem određenih SNP-ova u genomu. Na taj se način došlo do saznanja o povezanosti SNP-ova u regiji 9p21, gdje se nalaze geni za CDK2MA i CDK2MB, te ANRIL gen, a izvan te regije, u sklopu ovih studija, dokazana je povezanost SNP-ova unutar gena za PRKCH i još nekoliko njih, i razvoja MU.
Keywordsstroke genetics monogenic disorders polygenic disorders
Committee MembersIgor Antončić (committee chairperson)
Olivio Perković (committee member)
Darko Ledić (committee member)
GranterSveučilište u Rijeci
Medicinski fakultet
Lower level organizational unitsKatedra za neurologiju
PlaceRijeka
StateCroatia
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Study programme typeuniversity
Study levelintegrated undergraduate and graduate
Study programmeMedicine
Academic title abbreviationdr. med.
Genremaster's thesis
Language Croatian
Defense date2016-07-15
Parallel abstract (English)
Stroke is a clinical syndrome of vascular origin characterized by the sudden development of a focal or global neurologic deficit, persisting more than 24 hours or with letal outcome. It can be divided into two types: ischemic and hemorrhagic stroke. 50% of stroke risk factors are traditional risk factors – modifiable and non-modifiable, and the other 50% are genetic factors, whitin the monogenic or polygenic disorders. Monogenetic disorders associated with a stroke may be presented only with a stroke, or also may have manifestation on the others organ systems. Some of monogenic disorders associated with a stroke are CADASIL, CARASIL, RVCL, Fabry disease, sickle cell disease, MELAS and moyamoya. Polygenic disorders are the result of interactions of gene mutations and environmental factors. Candidate gene studies have identified significant association between increasing stroke risk and MTHFR, ACE factor, apo E, factor V Leiden and prothrombin genes, while linkage studies have shown that stroke risk is also associated with mutations for PDE4D and ALOX5AP. Nowadays, the GWAS technology has a major impact on our understanding of a stroke, identifying associations between some SNPs and increasing stroke risk. GWAS studies have identified associations between a stroke and SNPs in the chromosome 9p21 region, where genes for CDK2MA and CDK2MB, as well as ANRIL gene are included. Also, GWASs have identified associations between other SNPs in other regions and a stroke, and one of them are SNPs included in PRKCH gene.
Parallel keywords (Croatian)moždani udar genetika monogenski poremećaji poligenski poremećaji
Resource typetext
Access conditionAccess restricted to higher education institution's students and staff
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:184:690350
CommitterBosa Licul