Researchers from Tsinghua University in China discovered that genetic changes in Eif4enif1 can lead to ovarian dysfunction, resulting in the inability to produce eggs. results published In Development magazine.
It is known that pregnancy is impossible without ovulation, the process in which the egg passes from the ovary to the fallopian tube. Chinese scientists found that a mutation in the Eif4enif1 gene inhibits the ovaries’ ability to produce eggs, leading to infertility. In particular, such DNA damage affects the functioning of the mitochondria inside the egg. Mitochondria are also called power plants because they perform the function of converting incoming nutrients into energy.
In 2019, Chinese researchers learned about the existence of a family in which all members have mutational changes in the Eif4enif1 gene. Researchers modeled this genetic change in mice to see how it affects human fertility. It turned out that in the genetically modified mice, the average total number of follicles (tiny sacs containing developing eggs on the surface of the ovaries) was reduced by about 40% compared to their relatives. With artificial insemination, about half of the eggs did not survive the later stages of development.
Scientists discovered that mitochondria in eggs are not evenly distributed over all surfaces as they normally should be, but are grouped together. Most likely, misalignment of mitochondria due to mutation in Eif4enif1 is the cause of infertility. Researchers believe that restoring proper mitochondrial distribution may improve fertility. However, additional research is needed to develop appropriate drugs.
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