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New research finds possible genetic link to cause of pregnancy loss and disorders
Date:7/21/2009

mice to study the genetic causes of aneuploidy. They've zeroed in on mutations in a handful of genes as the culprits, including Bub1.

The gene plays a role in a checkpoint that ensures that chromosomes are properly divided during meiosis, the cell division process that enables a stem cell to become an egg. This checkpoint hiccups when Bub1 is mutated, sometimes producing an egg with an extra chromosome or an egg with a missing chromosome.

The team linked the issue to females by mating both a male with one bad copy of the gene with a normal female and a female with a bad copy of the gene with a normal male. When the female carried the bad copy, there were fewer births.

Further research revealed this is because aneuploidy was generated in the egg and passed on to the single-cell zygote that forms when a sperm fertilizes an egg. And this led to the loss of the embryo.

"This work certainly points to Bub1 having a role in maternal age-induced fertility issues," said Venkatachalam. "Now that we know the gene seems to have this role, the next big question is why, and we hope to continue the research in that direction."


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Contact: Jay Mayfield
jay.mayfield@tennessee.edu
865-974-9409
University of Tennessee at Knoxville
Source:Eurekalert

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