Gene expression profile of patients with Mayer-Rokitansky-Kuster-Hauser syndrome: new insights into the potential role of developmental pathways.

ABSTRACT: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare disease characterized by congenital aplasia of uterus and vagina. Although many studies have investigated several candidate genes, up to now none of them seem to be responsible for the aetiology of the syndrome. In our study, we identified differences in gene expression profile of in vitro cultured vaginal tissue of MRHKS patients using whole-genome microarray analysis. A group of eight out of sixteen MRKHS patients that underwent reconstruction of neovagina with an autologous in vitro cultured vaginal tissue were subjected to microarray analysis and compared with five healthy controls. Results obtained by array were confirmed by qRT-PCR and further extended to other eight MRKHS patients. Gene profiling of MRKHS patients delineated

SUBMITTER: Nodale C 

PROVIDER: S-EPMC3946625 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature