"Two recent Northwestern University studies shed new light on the mystery of the leading cause of birth defects and miscarriage, laying the foundation for further research in an understudied but crucially important field of genetic study.
The studies look at what happens during the process that produces egg cells (oocytes), which later become embryos when they are fertilized. Ten to 25 percent of human embryos contain the wrong number of chromosomes because the egg cell has not divided properly, which is a problem unique to egg cells.
These mistakes are the leading cause of miscarriages and birth defects such as Down syndrome, and the incidence of these errors rises dramatically as women age. Understanding why egg cells are more prone to this division error is critical, given that women are increasingly choosing to start families at later ages.
The first study, published in the Journal of Cell Biology in March, revealed that oocytes use an innovative strategy to detect and prevent errors during cell division, while the second study, published Sept. 26 in PLOS Genetics, identified new proteins essential for the cell-division process and discovered that a back-up protein kicks in when the division is failing to help ensure the embryo is receiving the correct number of chromosomes.
"Taken together, these two studies have revealed to us how vastly different egg cells are from every other type of cell, which could shed important new light on why the reproductive process can be so error prone," said senior author Sadie Wignall, assistant professor of molecular biosciences at Northwestern's Weinberg College of Arts and Sciences. "Solving this mystery would be a first step to prolonging a woman's fertile years."
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The studies look at what happens during the process that produces egg cells (oocytes), which later become embryos when they are fertilized. Ten to 25 percent of human embryos contain the wrong number of chromosomes because the egg cell has not divided properly, which is a problem unique to egg cells.
These mistakes are the leading cause of miscarriages and birth defects such as Down syndrome, and the incidence of these errors rises dramatically as women age. Understanding why egg cells are more prone to this division error is critical, given that women are increasingly choosing to start families at later ages.
The first study, published in the Journal of Cell Biology in March, revealed that oocytes use an innovative strategy to detect and prevent errors during cell division, while the second study, published Sept. 26 in PLOS Genetics, identified new proteins essential for the cell-division process and discovered that a back-up protein kicks in when the division is failing to help ensure the embryo is receiving the correct number of chromosomes.
"Taken together, these two studies have revealed to us how vastly different egg cells are from every other type of cell, which could shed important new light on why the reproductive process can be so error prone," said senior author Sadie Wignall, assistant professor of molecular biosciences at Northwestern's Weinberg College of Arts and Sciences. "Solving this mystery would be a first step to prolonging a woman's fertile years."
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