The Role of the Molecular Genetic Approach in the Pathogenesis of Endometriosis

Advances in cytogenetic, molecular genetic, and molecular cytogenetic techniques have provided convincing evidence in favor of a genetic basis for endometriosis and corroborating the higher prevalence of the disease in first-degree relatives of affected women. The regulatory mechanisms involved in the morphological and biochemical differentiation of the uterine endometrium are obviously complex, but consistent somatic genetic alterations have been identified. A higher percentage of aberrant metaphases showing aneuploidy, dicentric chromosomes, endomitosis, and chromosomal spraying have been detected in several trials. These results were further amplified by multicolored fluorescent in situ hybridization (FISH) analysis demonstrating the presence of alterations, where at least chromosomes 1, 16, 17, and 22 show structural aberrations containing genes that could play a role in the development and/or progression of endometriosis. Overall, the non-random distribution along with the subchromosomal location of the genetic alterations strongly supports the idea that these anomalies are relevant and are associated with the endometriotic process.