Ruqia FirdausVasavi Medical Research Centre, India
Title: Uterine leiomyomata and med12
Uterine Leiomyomata (UL), also called as fibroids are non- malignant smooth muscle tumors of the uterine myometrium. They may be solitary or multiple, syndromic or non-syndromic forms, in women of reproductive age in the third to fifth decade of their life. They may be asymptomatic or larger fibroids are associated with hemorrhage, pelvic pain, pressure, either increase urinary frequency or its retention, dysmenorrhoea, dyspareunia, pregnancy related problems, interference in the development of fetus, repetitive abortions, premature labor and infertility. The ovarian hormone estrogen is the main stimulator for the fibroid growth, regress or calcify after menopause. UL rarely progresses to malignancy. Global prevalence is as low as 5-10% in European countries to as high as 60-70 % in African countries. Around 40 -50 % of fibroids have chromosomal cytogenetic abnormalities. Believed to arise from a common progenitor cell. Distinct genetic alterations in fibroids were identified in Exon-2 of Mediator Complex Subunit 12 (MED-12) gene. In this study twenty-two multiple fibroids were examined both from the same uterus and from different uteri, of four women, for somatic mutations in hotspot region of MED-12 gene. Several variants in Exon-2 and flanking intronic regions were seen in the results which provided evidence that multiple UL in the same uterus may not be clonal in origin. This is the first study reporting MED-12 sequence variants in UL from South Indian women and also from multiple fibroids from the same individual.
Ruqia Firdaus is a Ph. D research scholar at Vasavi Medical Research Centre, O.U. She is a student at the Genetics department of Osmania University, Hyderabad, Telangana, India.