Abstract
Endometriosis is a benign disease with high prevalence in women of reproductive age estimated between 10 and 15% and is associated with considerable morbidity. Its etiology and pathogenesis are controversial but it is believed to involve multiple genetic, environmental, immunological, angiogenic, and endocrine processes. Altered expressions of growth factors, cytokines, adhesion molecules, matrix metalloproteinases, and enzymes for estrogen synthesis and metabolism have been frequently observed in this condition. The possibility of genetic basis of endometriosis is demonstrated in studies of familial disease, in which the incidence of endometriosis is higher for first-degree relatives of probands as compared to controls. This review describes mainly the cellular, cytochemical, cytogenetic, and molecular genetic features of endometriotic lesions and cultured endometriotic cells. In attempts to identify candidate gene (s) involved in the pathogenesis of endometriosis, a tissue-based approaches including conventional cytogenetics (RHG-banding), loss of heterozygosity (LOH), and comparative genomic hybridization (CGH) were employed. In addition to the karyotypic anomalies, consistent chromosome instability was confirmed by CGH and fluorescence in situ hybridization (FISH). The nature and significance of the molecular genetic aberrations in relation to the locations and function of oncogenes and tumor suppressor genes will be discussed. At last, a possible pathogenic role of embryonic duct remnants was observed in seven female fetal reproductive tract in endometriosis and may induce a discussion about the beginning of ovarian tumors and malignant proliferations.
Highlights
Endometriosis is a common gynecological disorder accounting for 10–15% of pelvic pain and infertility in women of reproductive age
The possibility of genetic basis of endometriosis is demonstrated in studies of familial disease, in which the incidence of endometriosis is higher for first-degree relatives of probands as compared to controls
Such cellular systems will permit the investigation of regulatory mechanisms controlling steroid hormone receptors expression and cytokine and growth factor secretion, which have been postulated to differ between cells from normal endometrium and endometriotic lesions [14,15,16,17,18]
Summary
Endometriosis is a common gynecological disorder accounting for 10–15% of pelvic pain and infertility in women of reproductive age. Cell culture allows the study of cell specific characteristics of endometriotic tissues compared to epithelial and stromal cells from normal endometrium. Such cellular systems will permit the investigation of regulatory mechanisms controlling steroid hormone receptors expression and cytokine and growth factor secretion, which have been postulated to differ between cells from normal endometrium and endometriotic lesions [14,15,16,17,18]. In an effort to learn more about endometriotic cell growth and differentiation, a cell culture model from different types of endometriotic lesions including ovarian cysts, peritoneal implants, and deep infiltrating endometriosis was successfully established in the author’s laboratory. The endometriotic cells cultured either in tissue culture chamber slides
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