Genes, Vol. 15, Pages 558: Genetic Mechanisms Driving Uterine Leiomyoma Pathobiology, Epidemiology, and Treatment

Genes, Vol. 15, Pages 558: Genetic Mechanisms Driving Uterine Leiomyoma Pathobiology, Epidemiology, and Treatment Genes doi: 10.3390/genes15050558 Authors: Malini S. Ramaiyer Eslam Saad Irem Kurt Mostafa A. Borahay Uterine leiomyomas (ULs) are the most common benign tumor of the uterus. They can be associated with symptoms including abnormal uterine bleeding, pelvic pain, urinary frequency, and pregnancy complications. Despite the high prevalence of UL, its underlying pathophysiology mechanisms have historically been poorly understood. Several mechanisms of pathogenesis have been suggested, implicating various genes, growth factors, cytokines, chemokines, and microRNA aberrations. The purpose of this study is to summarize the current research on the relationship of genetics with UL. Specifically, we performed a literature review of published studies to identify how genetic aberrations drive pathophysiology, epidemiology, and therapeutic approaches of UL. With regards to pathophysiology, research has identified MED12 mutations, HMGA2 overexpression, fumarate hydratase deficiency, and cytogenetic abnormalities as contributors to the development of UL. Additionally, epigenetic modifications, such as histone acetylation and DNA methylation, have been identified as contributing to UL tumorigenesis. Specifically, UL stem cells have been found to contain a unique DNA methylation pattern compared to more differentiated UL cells, suggesting that DNA methylation has a rol...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research