Genetika i epigenetika kao izvor neplodnosti čovjeka

master's thesis

• Title (english): Genetics and epigenetics as the source of infertility in humans
• Author: Anamaria Novak
• Mentor: Ana Katušić Bojanac (mentor)
• Committee member: Floriana Jakuš (predsjednik povjerenstva)
• Committee member: Ljiljana Šerman (član povjerenstva)
• Committee member: Ana Katušić Bojanac (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Biology); Zagreb
• Defense date and country: 2020-07-17, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Human Genetics, Genomics and Proteomics

Abstract

Neplodnost je definirana kao nemogućnost postizanja kliničke trudnoće nakon 12 mjeseci redovitih nezaštićenih spolnih odnosa i pogađa oko 10% parova generativne dobi. Brojni su uzroci neplodnosti i smanjene plodnosti, ženski, muški ili kombinirani. Za normalnu funkciju reproduktivnog sustava u oba spola nužan je pravilan embrionalni i fetalni razvoj reproduktivnih tkiva i zametnih spolnih stanica, održavanje njihovog integriteta tijekom djetinjstva i odrasle dobi, te pravilno odvijanje staničnih procesa gametogeneze uz regulativno djelovanje osi hipotalamus-hipofiza-gonada. Svi ovi procesi ovise o prikladnoj ekspresiji gena, koja je uvjetovana kako samom porukom unutar genoma, tako i pridruženim promjenama epigenoma, koje moduliraju fenotipski izražaj bez ikakvog učinka na genotip. Nepravilnosti genoma ili epigenoma unutar somatskih stanica gonada imaju učinak na determinaciju i diferencijaciju spola s posljedičnim nastankom poremećaja razvoja spola (engl. disorders of sex development, DSD). Nepravilnosti unutar zametnih spolnih stanica, s druge strane, ispoljavaju se kroz nepravilnosti gametogeneze, maturacije gameta, oplodnje ili ranog embrionalnog razvoja, dovodeći do defektne oplodnje, preimplantacijskog aresta ili prijenosa genetičkih i/ili epigenetičkih modifikacija na potomstvo, s posljedičnim razvojem kongenitalnih bolesti ili predispozicijom ploda za razvoj određenih bolesti u odrasloj dobi. Cilj ovog pregleda je proučiti genetičke i epigenetičke čimbenike u podlozi neplodnosti i smanjene plodnosti, sa svrhom boljeg razumijevanja njihove heterogene etiologije.

Abstract (english)

Infertility is defined as inability of establishing clinical pregnancy after 12 months of regular unprotected intercourse and it affects approximately 10% of couples in their reproductive years. The factors of infertility and reduced fertility are numerous, either female, male or combined. Accurate embryonic and fetal development of reproductive tissues and germ cells, maintenance of their integrity in adulthood, as well as proper cellular steps during gametogenesis regulated by hypothalamic-pituitary-gonadal axis, are all indispensable for the normal function of reproductive system in both sexes. All of these processes are dependent on adequate gene expression, which arises from the interplay of underlying nucleotide sequence and its associated epigenomic pattern that modulates phenotypic expression without any genotypic alteration. Any genomic or epigenomic irregularity of somatic gonadal cells has the potential to disturb sex determination and differentiation with consequential occurrence of disorders of sex development (DSD). On the other hand, irregularities of germ cells lead to defects of gametogenesis, gamete maturation processes , fertilization or early embryonic development
with manifestation as fertilization failure, preimplantational arrest or transmission of genetic and/or epigenetic modifications to the offspring with subsequent development of congenital diseases or susceptibility to certain diseases in adulthood. The aim of this review is to evaluate genetic and epigenetic factors underlying infertility and subfertility so as to better appreciate
the heterogeneity of their etiology.

• Keywords: neplodnost; genetika; epigenetika; reproduktivni sustav; embrionalni razvoj
• Keywords (english): infertility; genetics; epigenetics; reproductive system; embryonic development
• Language: croatian
• URN:NBN: urn:nbn:hr:105:696553
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-03-08 11:41:45