Unit:
Κατεύθυνση Αναπαραγωγική-Αναγεννητική ΙατρικήLibrary of the School of Health Sciences
Author:
Machairiotis Nikolaos
Supervisors info:
Δρακάκης Πέτρος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ, Επιβλέπων
Ντόμαλη Αικατερίνη, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μαυρογιάννη Δέσποινα, Ε.ΔΙ.Π., Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Η ενδομητρίωση και τα γενετικά χαρακτηριστικά της νόσου
Translated title:
Endometriosis: genetic characteristics of the disease
Summary:
Since the original clinical description of endometriosis, much has been accomplished in furthering our understanding of this debilitating disease. Though no theory of pathogenesis can account for all of the described manifestations of endometriosis, the retrograde menstruation theory has gained widespread acceptance as an explanation for the dissemination of endometrial cells. The exact factor or factors that orchestrate the survival and subsequent implantation of the displaced endometrium remain unknown. Innate or acquired properties of the endometrium and defective immune clearance are systems of interest in elucidating the establishment of endometriotic implants. Disease heterogeneity, particularly in lesional phenotype, requires adherence to histopathologic confirmation of implants in clinical and molecular research. The underpinnings for the observed hallmarks of inflammation, estrogen dependence, and progesterone resistance in the pathophysiology of endometriosis associated pain and infertility are areas of active research. With further advances in our understanding of endometriosis, preventive strategies, novel non-surgical diagnostic modalities and targeted therapeutics hold great promise of becoming realities.
In this diploma thesis, reference is made to the most recent methods of genome analysis and their applications in the investigation of endometriosis genetic features. Some of the most interesting results are related to the identification of genomic polymorphisms (SNPs) and quantitative expression of the genome (eQTL) in samples from endometriosis patients. The research results show that the interaction between genes plays a key role in their expression. In addition, genetic mutations detected in samples from endometriotic tissue show a possible association of the disease with cancer in endometriosis patients.
Main subject category:
Health Sciences
Keywords:
Endometriosis, Biomarker, Tumor, Mutation