A new study led by researchers at Tsinghua University in China explores the link between genetic variations and female infertility, particularly focusing on premature ovarian insufficiency (POI).
POI is a condition characterized by problems with egg production before the age of 40, leading to female infertility. Genetic variations, including changes in the Eif4enif1 gene, have been associated with POI in some cases.
To better understand how genetic changes affect infertility, the researchers used CRISPR gene editing to introduce the Eif4enif1 gene mutation in mice.
They found that mice with the genetic variation had a 40% reduction in the average number of total follicles (sacs containing developing eggs) as they aged. Furthermore, the number of pups in each litter was reduced by 33%.
In vitro fertilization experiments also revealed that about half of the fertilized eggs from these mice did not survive beyond the early stages of development.
A significant observation made during the study was that the mitochondria in the eggs of genetically edited mice exhibited abnormal behavior.
Mitochondria are crucial for providing energy to cells, including egg cells. While mitochondria are typically evenly distributed throughout eggs, those in the genetically edited mice were clustered together.
This finding suggests that mitochondrial abnormalities may play a role in fertility problems in mice with genetic variations associated with POI.
The researchers propose that restoring proper mitochondrial function could be a potential therapeutic strategy for improving fertility in individuals with similar genetic variants.
The study sheds light on the mechanisms underlying female infertility related to genetic variations and provides directions for future research, including investigating mitochondrial defects in human patients with premature ovarian insufficiency and exploring potential treatments targeting mitochondrial abnormalities.
The research findings can be found in Development.
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