Title (croatian) Funkcionalna nejednakost roditeljskih genoma u etiologiji gestacijskih trofoblastičnih bolesti
Title (english) Functional non-equivalence of parental genomes in the etiology of gestational trophoblastic disease
Author Nina Pereza
Author Saša Ostojić
Author's institution University of Rijeka Faculty of Medicine (Department of Biology and Medical Genetics)
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Basic Medical Sciences Human Genetics, Genomics and Proteomics
Abstract (croatian) SAŽETAK. Gestacijska trofoblastična bolest (GTB) heterogena je skupina novotvorina koje
nastaju iz trofoblastnih stanica placente. Pravilna diferencijacija i funkcija trofoblasta tijekom
implantacije i placentacije od iznimne su važnosti za uspješnu trudnoću u sisavaca. Epigenetički
mehanizmi koji omogućuju transkripcijsku kontrolu genske ekspresije bez promjene
nukleotidnog slijeda samog gena, ključni su čimbenici koji određuju normalan rast i razvoj
placente i embrija. Genomski upis je posljedica epigenetičkih modifikacija koje dovode do
ekspresije samo jednog alela istog gena, ovisno o roditeljskom podrijetlu. Iako su po genskoj
strukturi genomi oca i majke identični, oni nisu jednaki i funkcionalno, te je za uspješnu
trudnoću nužna prisutnost oba roditeljska genoma u zigoti. Genomski upisani geni imaju
ključnu ulogu u kontroli rasta i razvoja embrija, te reguliraju glavne funkcije na fetoplacentarnoj
jedinici, kao što su prijenos hranjivih tvari, proliferacija i invazivnost trofoblasta, te angiogeneza.
Nepravilnosti genomskog upisa, uključujući nepravilan omjer majčinih i očevih genoma,
dovode do brojnih poremećaja u rastu i razvoju fetusa i placente, te imaju ključnu ulogu u
patogenezi GTB. Stalni napredak u području (epi)genetike reprodukcije pruža mogućnost da
će u skoroj budućnosti modifikacije epigenetičkih mehanizama koji kontroliraju gensku
ekspresiju biti temeljem moderne dijagnostike, praćenja i liječenja patoloških trudnoća. U
ovom preglednom radu dajemo prikaz sadašnjih spoznaja uloge (epi)genetičkih čimbenika u
etiologiji GTB.
Abstract (english) ABSTRACT. Gestational trophoblastic disease (GTD) is a heterogeneous group of neoplastic
conditions which arise from abnormal proliferation of trophoblastic tissues during
pregnancy. The proper differentiation and function of trophoblast during embryo
implantation and placentation is essential for successful pregnancy. Epigenetic mechanisms,
which provide transcriptional control of gene expression without alterations in gene
sequence, are critical components of normal development of placenta and embryo. Genomic
imprinting is an epigenetic form of gene regulation which results in the parent-of-origin
specific gene expression and leads to functional non-equivalency of parental genomes. This
indicates that the presence of both the maternal and paternal genomes is required in the
zygote for normal development. Genomically imprinted genes regulate embryonic and
placental development and have major functions at the feto-maternal interface, including
nutrient transport, trophoblast proliferation, invasion and angiogenesis. Abnormalities in
genomic imprinting, including altered ratio between maternal and paternal genomes, lead
to numerous disorders of fetal and placental growth, and have a key role in the pathogenesis
of GTD. The constant progress in the field of reproductive (epi)genetics indicates that
modification of epigenetic mechanisms which control gene expression will have an
important role in the diagnosis, prognostic assessment and treatment of pathological
pregnancies. In this review we present the current understanding of the (epi)genetic
mechanisms involved in the etiology of GTD.
Keywords (croatian)
epigenetika
genetika reprodukcije
genomski upis
gestacijska trofoblastična bolest
trudnoća
Keywords (english)
epigenetics
genomic imprinting
gestational trophoblastic disease
pregnancy
reproductive genetics
Language croatian
Publication type Professional paper - Review paper
Publication status Published
Peer review Peer review
Publication version Published version
Journal title Medicina Fluminensis : Medicina Fluminensis
Numbering vol. 44, no. 1, pp. 22-37
p-ISSN 0025-7729
URN:NBN urn:nbn:hr:184:806233
Publication 2008-06-01
Document URL http://hrcak.srce.hr/25945
Type of resource Text
Access conditions Open access
Terms of use
Created on 2017-04-28 08:49:19