Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

The Genetic Bases of Uterine Fibroids; A Review

Authors
Veronica Medikare 1
Lakshmi Rao Kandukuri 2
Ananthapur Venkateshwari 3
Mamata Deenadayal 4
Pratibha Nallari 1
1 Department of Genetics, Osmania University, Hyderabad, India
2 Center for Cellular and Molecular Biology, Habsiguda, Hyderabad, India
3 Institute of Genetics and Hospital for Genetic Diseases, Begumpet, Hyderabad, India
4 Infertility Institute and research Center, Secunderabad, India
Abstract
Uterine leiomyomas/fibroids are the most common pelvic tumors of the female genital tract. The initiators remaining unknown, estrogens and progesterone are considered as promoters of fibroid growth. Fibroids are monoclonal tumors showing 40-50% karyo-typically detectable chromosomal abnormalities. Cytogenetic aberrations involving chromosomes 6, 7, 12 and 14 constitute the major chromosome abnormalities seen in leiomyomata. This has led to the discovery that disruptions or dysregulations of HMGIC and HMGIY genes contribute to the development of these tumors. Genes such as RAD51L1 act as translocation partners to HMGIC and lead to disruption of gene structure leading to the pathogenesis of uterine fibroids. The mechanism underlying this disease is yet to be identified. The occurrence of PCOLCE amid a cluster of at least eight Alu sequences is potentially relevant to the possible involvement of PCOLCE in the 7q22 rearrangements that occur in many leiomyomata. PCOLCE is implicated in cell growth processes. Involvement of Alu sequences in rearrangements can lead to the disruption of this gene and, hence, loss of control for gene expression leading to uncontrolled cell growth. This can also lead to the formation of fibroids. Though, cytogenetics provides a broad perspective on uterine fibroid formation, further molecular analysis is required to understand the etiopathogenesis of uterine fibroids.
Keywords
Chromosomal
Chromosomal translocation
estrogen
Gene rearrangement
Progesterone
uterine fibroids
Uterine Leiomyomas
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Journal of Reproduction & Infertility
Volume 12, Issue 3
Summer 2011
Pages 181-191