The first such result is that early development of zebrafish was not hampered by the absence of the Bloom protein, moreover there were no observable differences between Blm-deficient and healthy fish even after they were subjected to DNA damaging treatments. "The disease model established by our researchers showed marked similarities to human Bloom syndrome, however a number of species-specific novelties were also uncovered. The latter phenomenon was previously linked to cell death in rats. In healthy testes the protein localizes to the nuclei, where it can fulfil its role, whereas in mutants it accumulates around the nucleus. Cell nuclei are shown in blue, a key protein of division in reproductive cells (Sycp3) is shown in yellow. ![]() Bloom is one such gene, thus allowing researchers to create mutants in order to study the symptoms of the mutation.įluorescent microscopy images of healthy (left) and Bloom mutant (right) testes. Although at first glance they vastly differ from humans, their genetic material is remarkably similar as is shown by the fact that 82% of the genes associated with human diseases have zebrafish counterparts. It serves as their advantage that they are easy to keep, relatively small and produce many rapidly growing offspring that develop outside of the bodies of the parents. In the past decades zebrafish also became a prime member this group. There are various vertebrate (African clawed frog, house mouse, brown rat, domestic rabbit) and invertebrate (roundworm, fruit fly) animals used in ‘in vivo’ studies worldwide. Owing to their complexity, it is beneficial to examine diseases such as Bloom syndrome not just using cell cultures and computer models, but also by involving whole organisms. The importance of uncovering the functional roles of Bloom is further compounded by the fact that via its inhibition the survival and growth of certain cancerous cells might be hindered. The cause of the symptoms is the malfunction of a single gene which was also named Bloom, as was the protein which it encodes.īloom and the four other members in its protein family are involved in a multitude of cellular processes responsible for DNA integrity maintenance, moreover their roles often overlap, making the task of studying the syndrome equally considerably challenging and necessary. In addition to providing important information on the cellular effects of Bloom syndrome, the new model could contribute to the development of compounds capable of mitigating symptoms and thus improve the quality of life of people living with the disease.īloom syndrome is a rare hereditary genetic disease characterized by short stature, reduced fertility, reddish lesions on the skin upon being exposed to sun and increased risk of cancer development leading to premature death. ![]() The study, linking two seemingly unrelated topics, was carried out by the research teams of Mihály Kovács (Department of Biochemistry) and Máté Varga (Department of Genetics) and published in the scientific journal Cell Death and Disease. Researchers at Eötvös Loránd University (ELTE) have created a new disease model that has contributed to a better understanding of Bloom syndrome and the sex determination processes of zebrafish.
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