Review article
Functional non-equivalence of parental genomes in the etiology of gestational trophoblastic disease
Nina Pereza
; Department of biology and medical genetics, School of Medicine, University of Rijeka, Croatia
Saša Ostojić
; Department of biology and medical genetics, School of Medicine, University of Rijeka, Croatia
Abstract
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
epigenetics; genomic imprinting; gestational trophoblastic disease; pregnancy; reproductive genetics
Hrčak ID:
25945
URI
Publication date:
1.6.2008.
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