Mitochondrial DNA Haplogroup R Confers a Genetic Risk Factor for Intrauterine Adhesion in Han Women Population

Abstract

Background: To determine whether a specific mitochondrial DNA (mtDNA) haplogroup is implicated in the pathogenesis of intrauterine adhesion (IUA). Methods: Peripheral blood samples were collected from 486 women with (case group, n = 154) and without IUA (control group, n = 332) at the Women's Hospital, Zhejiang University School of Medicine. Genomic DNA was extracted from the blood, and the mtDNA haplogroups of Han women M, N and R were determined by sequencing hypervariable mtDNA segments and testing diagnostic polymorphisms in the mtDNA coding region. Results: Women with mtDNA haplogroup R had an independently increased genetic risk factor for IUA with an OR 1.77 (95% CI 1.16-2.70, p = 0.009) compared with women without. Moreover, repeated intrauterine surgery within 1 month and number of intrauterine operations were both significantly associated with IUA (p < 0.001). Conclusions: These results suggest that mtDNA haplogroup R, one of the main mtDNA haplogroups in Han population, is a strong independent genetic risk factor for women with IUA.

Mitochondrial transfer restores the proliferation of injured endometrial stromal cell

“…Lysosomal hydrolase release and lysosomal dysfunction are found in endometrial stromal cells, which may lead to mitochondrial dysfunction [21] . Our previous studies on mitochondrial DNA also found that the polymorphism of genes that transcribe and translate proteins related to oxidative phosphorylation in mitochondrial DNA can affect the repair and proliferation of the endometrium, which indirectly con rmed that the change of mitochondrial function is related to the repair and proliferation of the endometrium [22] .…”

A randomized controlled study on an integrated approach to prevent and treat re-adhesion after transcervical resection of moderate-to-severe intrauterine adhesions

“…Pathogenesis of IUA remains unknown although there are several hypotheses on this, including active proliferation of fiber cells (10) and neural reflection (3). The risks of IUAs are abortions, pelvic inflammatory disease, IUD related intrauterine diseases, other intrauterine diseases and genetic inheritance (11)(12)(13)(14). Hysteroscopic surgery is the gold standard for the diagnosis and treatment of IUA.…”