Unexplained infertility in females may be a devastating event for the reproductive-aged female.However,infertility may be due to ovarian failure associated with celiac disease,an immune-mediated disorder that may have...Unexplained infertility in females may be a devastating event for the reproductive-aged female.However,infertility may be due to ovarian failure associated with celiac disease,an immune-mediated disorder that may have few or no symptoms and can be successfully treated.In some prospective serologically-based studies,over 4% of infertile females may prove to have celiac disease.Serological screening for celiac disease is relatively inexpensive and involves testing for antibodiesto tissue transglutaminase.If positive,a small intestinal biopsy should be done to confirm the diagnosis.The initial treatment for this disorder is a gluten-free diet.To date,a number of reports have indicated that this treatment for celiac disease may result in successful pregnancy,in spite of prolonged periods of infertility.Celiac disease,when untreated,may also lead to several adverse events following pregnancy including increased risk of recurrent abortions,low birthweight and impaired fetal growth.Recent molecular and pathological studies from different laboratories suggest that altered placental function may be due to binding to cells in the trophoblast by tissue transglutaminase antibodies impairing embryo implantation and leading to failure of early pregnancy or retarded intrauterine growth.展开更多
DNA mismatch repair （MMR） is one of the biological pathways, which plays a critical role in DNA home- ostasis, primarily by repairing base-pair mismatches and insertion/deletion loops that occur during DNA replicati...DNA mismatch repair （MMR） is one of the biological pathways, which plays a critical role in DNA home- ostasis, primarily by repairing base-pair mismatches and insertion/deletion loops that occur during DNA replication. MMR also takes part in other metabolic pathways and regulates cell cycle arrest. Defects in MMR are associated with genomic instability, predisposition to certain types of cancers and resistance to certain therapeutic drugs. Moreover, genetic and epigenetic alterations in the MMR system demonstrate a significant relationship with human fertility and related treatments, which helps us to understand the etiology and susceptibility of human infertility. Alterations in the MMR system may also influence the health of offspring conceived by assisted reproductive technology in humans. However, further studies are needed to explore the specific mechanisms by which the MMR system may affect human infertility. This review addresses the physiological mechanisms of the MMR system and associations between altera- tions of the MMR system and human fertility and related treatments, and potential effects on the next generation.展开更多
文摘Unexplained infertility in females may be a devastating event for the reproductive-aged female.However,infertility may be due to ovarian failure associated with celiac disease,an immune-mediated disorder that may have few or no symptoms and can be successfully treated.In some prospective serologically-based studies,over 4% of infertile females may prove to have celiac disease.Serological screening for celiac disease is relatively inexpensive and involves testing for antibodiesto tissue transglutaminase.If positive,a small intestinal biopsy should be done to confirm the diagnosis.The initial treatment for this disorder is a gluten-free diet.To date,a number of reports have indicated that this treatment for celiac disease may result in successful pregnancy,in spite of prolonged periods of infertility.Celiac disease,when untreated,may also lead to several adverse events following pregnancy including increased risk of recurrent abortions,low birthweight and impaired fetal growth.Recent molecular and pathological studies from different laboratories suggest that altered placental function may be due to binding to cells in the trophoblast by tissue transglutaminase antibodies impairing embryo implantation and leading to failure of early pregnancy or retarded intrauterine growth.
基金Project supported by the National Basic Research Programs (973) of China(Nos.2012CB944901 and 2014CB943302)the National Natural Science Foundation of China(Nos.81200475,81370760,and 81571500)the Zhejiang Provincial Natural Science Foundation of China(No.LZ13H040001)
文摘DNA mismatch repair （MMR） is one of the biological pathways, which plays a critical role in DNA home- ostasis, primarily by repairing base-pair mismatches and insertion/deletion loops that occur during DNA replication. MMR also takes part in other metabolic pathways and regulates cell cycle arrest. Defects in MMR are associated with genomic instability, predisposition to certain types of cancers and resistance to certain therapeutic drugs. Moreover, genetic and epigenetic alterations in the MMR system demonstrate a significant relationship with human fertility and related treatments, which helps us to understand the etiology and susceptibility of human infertility. Alterations in the MMR system may also influence the health of offspring conceived by assisted reproductive technology in humans. However, further studies are needed to explore the specific mechanisms by which the MMR system may affect human infertility. This review addresses the physiological mechanisms of the MMR system and associations between altera- tions of the MMR system and human fertility and related treatments, and potential effects on the next generation.
