Najučestalije nasljedne bolesti u velikih pasmina pasa

master's thesis

• Title (english): The Most Common Hereditary Diseases in Large Breeds of Dogs
• Author: Mihovila Ivanda
• Mentor: Sven Menčik (mentor)
• Mentor: Anamaria Ekert Kabalin (mentor)
• Committee member: Maja Maurić Maljković (predsjednik povjerenstva)
• Committee member: Ivan Vlahek (član povjerenstva)
• Committee member: Sven Menčik (član povjerenstva)
• Granter: University of Zagreb; Faculty of Veterinary Medicine; Zagreb
• Defense date and country: 2024-11-27, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Veterinary Medicine; Animal Production and Biotechnology

Abstract

Cilj diplomskog rada bio je ukratko prikazati najučestalije nasljedne bolesti kod
velikih pasmina pasa, a to su: cerebralna ataksija, cistinurija, degenerativna mijelopatija,
dilatacijska kardiomiopatija, dnevna sljepoća, hiperurikozurija, leukoencefalomiopatija,
mišićna distrofija, nasljedna miopatija, polineuropatija, progresivna atrofija retine i von
Willebrandova bolest tip 1.
Za svaku bolest je navedeno kako se manifestira i kako utječe na zdravlje pasa te su
opisane dijagnostičke metode i genetske mutacije koje ih uzrokuju. Istaknuta je važnost
genetskog testiranja u dijagnostici, kako bi se pravovremeno identificirali nositelji bolesti i
stanja te se spriječilo njihovo moguće širenje bolesti u uzgojima pasa.
Također, opisana su istraživanja u kojima su otkrivene nove genetske varijante povezane s
nasljednim bolestima pasa, odnosno navedene su najznačajnije varijante gena odgovorne za
njihovu pojavu.
U diplomskom radu opisani su tijek i nastanak bolesti. Zaključna razmatranja ističu
da su genetska testiranja ključan čimbenik u smanjenju rizika i prijenosa nepoželjnih
varijanti gena čime se smanjuje pojavnost nasljednih bolesti u populacijama velikih pasmina
pasa, te osigurava poboljšanje njihova zdravlja i dobrobiti životinja.

Abstract (english)

The aim of the thesis was to briefly present the most common hereditary diseases in
large dog breeds: cerebral ataxia, cystinuria, degenerative myelopathy, dilated
cardiomyopathy, day blindness, hyperuricosuria, leukoencephalopathy, muscular dystrophy,
hereditary myopathy, polyneuropathy, progressive retinal atrophy, and von Willebrand
disease type 1.
For each disease, it is stated how it manifests itself and how it affects the health of
dogs. The diagnostic methods and genetic mutations that cause them are described. The
importance of genetic testing in diagnostics was emphasized in order to timely identify the
carriers of diseases and conditions and to prevent their possible spread in dog breeding.
The research also unveiled new genetic variants linked to hereditary diseases in dogs,
underscoring their significance. The most crucial gene variants responsible for these diseases
are meticulously listed, providing a comprehensive understanding of their occurrence.
The thesis delves into the course and origin of the disease, providing a comprehensive
understanding. The concluding remarks highlight that genetic testing is a pivotal tool in
mitigating the risk and transfer of undesirable gene variants. This, in turn, reduces the
prevalence of hereditary diseases in populations of large dog breeds, thereby enhancing their
health and welfare.

• Keywords: pas; nasljedne bolesti; genetsko testiranje; uzgoj
• Keywords (english): dog; hereditary diseases; genetic testing; breeding
• Language: croatian
• URN:NBN: urn:nbn:hr:178:841493
• Study programme: Title: Veterinary Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica veterinarske medicine (doktor/doktorica veterinarske medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2025-01-14 13:57:00