Fenotipske razlike pacijenata oboljelih od bolesti Xeroderma pigmentosum ovisne o tipu mutacije

undergraduate thesis

• Title (english): Phenotypic variations in Xeroderma pigmentosum patients depending on mutation type
• Author: Mia Pejković
• Mentor: Ivana Ivančić Baće (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2016, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Xeroderma pigmentosum (XP) je recesivna autosomalna bolest prouzročena nemogućnošću popravka oštećene DNA, koja nastaje kao posljedica izlaganja UV-zračenju. Simptomi bolesti variraju, ali se u osnovi mogu podijeliti na okularne, kožne, oralne i neurološke lezije. Postoji osam podtipova bolesti, od XPA do XPG uključujući i XPV. Sedam od osam podtipova, XPA do XPG, imaju mutaciju unutar gena koji sudjeluju u ekscizijskom popravku nukleotida (NER), mutirani su im geni potrebni za uklanjanje UV oštećenja s molekule DNA. Samo XPV ima u potpunosti funkcionalne gene za NER, ali ima mutiran gen POLH koji kodira za DNA polimerazu eta (Pol η), enzim potreban za zaobilaženje oštećenja na DNA tj. translezijsku replikaciju DNA koja sadrži oštećenje. Dijagnoza se obično uspostavlja nakon pojave teških opeklina pri minimalnoj izloženosti UV-zračenju, zbog nastanka lentinigoza na izloženim dijelovima tijela ili zbog podložnosti nastanku raka kože u izrazito ranoj dobi. Konačna dijagnoza se uspostavlja testiranjem defektnog DNA popravka. Životni vijek XP pacijenata je znatno skraćen u odnosu na zdravu populaciju, iz razloga što su XP pacijenti podložni nastanku malignih kožnih promjena i teških neuroloških oštećenja.

Abstract (english)

Xeroderma pigmentosum (XP) is autosomal recessive disorder caused by inability of repair of damaged DNA, caused by UV-radiation. The features that characterize this disoreder vary, but we can roughly divide them into 4 subgroups, ocular, cutaneous, oral and neurological lesions. There are eight types of this disorder, from XPA to XPG including XPV. Every of XPA to XPG type, carry a mutation in one of genes that take part in nucleotide excison repair (NER), they have mutated genes required to remove UV damage from the DNA. XPV is the only type of XP that has all genes required in NER functional, but it has POLH gene mutated. POLH gene encodes DNA polymerase eta (Pol η), an enzyme vital for replicating DNA containing unrepaired DNA damage, translesion synthesis (TLS). Diagnosis is made based on the presence of severe sunburns at minimal exposure to UV-radiation, appearance of lentiginosis in sun-exposed areas or by developing skin cancers at an unusually young age. The diagnosis is confirmed by cellular tests for defective DNA repair. Life span of XP patients is shorter due to susceptiability for malignance skin changes and progressive neurological abnormalities.

• Keywords: Xeroderma pigmentosum
• Keywords (english): Xeroderma pigmentosum
• Language: croatian
• URN:NBN: urn:nbn:hr:217:728670
• Study programme: Title: Ecology; 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 resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-01-03 11:05:23