"Ovum death" pathogenic mechanism found, originally inherited from the father April 16, 2019 Source: Science and Technology Daily The health of human eggs is the basis for the normal reproduction of human beings. It is related to whether pregnancy can be established and whether the future growth of the fetus is healthy. But not all women have healthy eggs. With the deepening of infertility medicine research, the cause of egg abnormalities is gradually discovered. Recently, Science Journal of Science and Technology published online publication of the School of Life Sciences of Fudan University, State Key Laboratory of Genetic Engineering, Associate Professor Sang Qing and Professor Wang Lei, and the Reproductive Center of the Ninth People's Hospital affiliated to Shanghai Jiaotong University School of Medicine. The latest research results of Professor Yanping's team. For the first time, they discovered a new type of human genetic disease, which was named "Ovum Death" and also revealed the cause of "egg death." This major discovery laid the foundation for the future cure of female "oval death" diseases. Egg death is a new Mendelian genetic disease Mendel's genetic disease, also known as monogenic disease, is a disease or pathological trait controlled by a pair of alleles, a type of hereditary disease that is sufficient for a single gene to mutate in humans. Because the pathogenic genes located on different chromosomes have different genetic patterns, and the chromosomes are divided into autosomes and sex chromosomes, and genes also have dominant genes and recessive genes, so monogenic diseases can be divided into autosomal dominant. Genetic diseases, autosomal recessive diseases, X-linked dominant genetic diseases, X-linked recessive genetic diseases, and Y-linked genetic diseases. "'Ovary death' is an autosomal dominant disease, and its pathogenic mutation comes from the father of a female patient." Wang Lei told the Science and Technology Daily reporter. During the research, they found that some patients took the eggs out of the body for a period of time or after a period of fertilization, and the eggs appeared black, atrophy and degeneration, especially when such unique conditions were When they were shown in some of their immediate family members, they set out to start research in the direction of family inheritance. The Pannexin (PANX) family is an important ion channel that forms the junction between cells, and the signal pathways they control play a key role in the normal physiological function of cells. PANX1 was replicated in 2003. Over the next decade or so, a large number of studies reported that it was associated with physiological and pathological processes such as inflammation, infection, and ischemia, but there were no reports of human diseases caused by PANX1 mutations. This time, after more than three years of joint research, the research team found that the cause of "egg death" is that there are different mutations in PANX1, and the pathogenic mechanism has been found through various angles and methods such as mouse model and cell model. "Ovum Death" is a new Mendelian genetic disease and the first ion channel disease of the PANX family members. To validate the results, the team produced four mouse models of point mutations based on the genetic characteristics of four "oval death" patients in an attempt to reproduce the disease state. However, the initial experiment failed because the mouse model can be pregnant normally. The researchers unexpectedly found that the expression of this gene was significantly higher in the human egg than in the mouse egg, and then the mouse model of overexpression of the corresponding gene was further produced. The phenotype of "egg death" was finally reproduced. Exploring the treatment path of "egg death" disease Does this mean that the next generation of men carrying “mutant genes†will definitely get sick? Wang Lei emphasized that because this is an autosomal dominant disease, 50% of the offspring are likely to carry this mutant gene, but only women who carry the mutation gene will develop the disease and have no effect on men. Wang Lei said that because team research is a series of studies in the field of reproduction, "egg death" is only one of the genetic mutations. In the past few years, some other genetic mutations have been discovered, including two new Mendelian inheritance. Disease, 5 new disease-causing genes. Therefore, at present, only a part of patients can explain the "infertility" crux. From the perspective of the "oval death" woman, it is necessary to find the crux of the problem. Because the male mutant gene is the cause of the next generation of female "oval death." Therefore, starting from the mutant gene, the Wang Lei team intends to use the mouse model to find out whether there is a way to reverse the disease in the follow-up study. The current plan includes the use of small molecule targeted drugs. Wang Lei said: "This experiment may lay a foundation for future treatment." But he also told reporters that genetic research in the field of infertility started late, especially in the egg field. Therefore, in their research planning, the first step is to find the disease-causing gene; the second step is treatment. Exploration of methods. At present, they are carrying out research work in these two areas and hope that there will be breakthroughs in the future. In recent years, the research team has continued to pay attention to the genetic basis of early human reproductive abnormalities, and carried out a series of studies, revealing that a large number of previously unknown new genes are hidden in human eggs and early embryo development. It is undeniable that the findings of this study have positive significance in the field of human genetics and reproductive medicine, and have discovered a new human genetic disease, as well as genetic counseling for related patients and accurate medical practice in assisted reproduction. Foundation. Probiotics are a class of active microorganisms that are beneficial to the host by colonizing the human body and changing the composition of the flora in a certain part of the host. 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