Epigenetika i bolesti

undergraduate thesis

• Title (english): Epigenetics and disease
• Author: Sanja Pehar
• Mentor: Višnja Besendorfer (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2012, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Epigenetika je područje koje se bavi istraživanjem nasljedne promjene u genskoj ekspresiji ili staničnog fenotipa uzrokovane mehanizmima drugačijima od promjene u sekvenci DNA. Prije svega, to se odnosi na funkcionalno relevantne modifikacije genoma koji ne uključuju promjenu u nukleotidnoj sekvenci. Primjeri takvih promjena su metilacija DNA i histonska modifikacija, a oba primjera služe za regulaciju genske ekspresije bez promjene temeljne DNA sekvence. Iako modifikacija histona uključuje cijelu sekvencu, nestrukturirani N- terminalni krajevi (nazvani histonskim repovima) su visoko modificirani. Ove modifikacije uključuju acetilaciju, metilaciju, ubikvitilaciju, fosforilaciju. Epigenetika ima brojne i raznovrsne, potencijalne medicinske aplikacije što ju i čini višedimenzionalnom u prirodi. Kongenitalne genetske bolesti su dobro razumljive, i jasno je da epigenetika igra bitnu ulogu, na primjer, u slučaju sindroma Angelman i Prader-Wili. To su normalne genetičke bolesti uzrokovane delecijom ili inaktivacijom gena, ali su neobično česte bolesti jer su pojedinci često hemizigoti zbog genomskog imprintinga i dovoljno je da narušavanjem jednog gena dođe do bolesti, ali mnogo slučajeva zahtijeva narušavanje obje kopije gena. Posljednjih godina epigenetske bolesti doživjele su eksplozivan rast (sl. 7). Unatoč tome, mnogo stvari je još neotkriveno. Nedostaje nam podaci o utjecaju većine epigenetskih funkcija u eukariotskom genomu.

Abstract (english)

Epigenetics is the study of heritable changes in gene expression or cellular phenotype caused by mechanisms other than changes in the underlying DNA sequence. It refers to functionally relevant modifications to the genome that do not involve a change in the nucleotide sequence. Examples of such changes are DNA methylation and histone modification, both of which serve to regulate gene expression without altering the underlying DNA sequence. Although histone modifications occur throughout the entire sequence, the unstructured N-termini of histones (called histone tails) are particularly highly modified. These modifications include acetylation, methylation, ubiquitylation, phosphorylation. Epigenetics has many and varied potential medical applications as it tends to be multidimensional in nature. Congenital genetic disease is well understood, and it is also clear that epigenetics can play a role, for example, in the case of Angelman syndrome and Prader-Willi syndrome. These are normal genetic diseases caused by gene deletions or inactivation of the genes, but are unusually common because individuals are essentially hemizygous because of genomic imprinting, and therefore a single gene knock out is sufficient to cause the disease, where most cases would require both copies to be knocked out. The field of disease epigenetics has seen explosive growth in recent years. However, this excitement should be tempered by the fact that we lack fundamental understanding of how the majority of epigenetic marks function in the eukaryotic genome.

• Keywords: epigenetika
• Keywords (english): epigenetics
• Language: croatian
• URN:NBN: urn:nbn:hr:217:394778
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-04-19 12:40:50