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

KNOXVILLE -- Scientists at the University of Tennessee, Knoxville, and Lawrence Berkeley National Laboratory (LBNL) have published new findings about a cause of a condition at the root of genetic disorders such as Down Syndrome, pregnancy loss and infertility.

Called aneuploidy, the condition is an abnormal number of chromosomes, and the research team found that if a mother's egg cell has a mutation in just one copy of a gene, called Bub1, then she is less likely to have offspring that survive to birth.

The findings appear in the online early edition of the Proceedings of the National Academy of Sciences for the week of July 13.

Sundar Venkatachalam, an assistant professor of biochemistry and cellular and molecular biology at UT Knoxville, originally was studying the gene for a possible connection to colon cancer, when he found his lab mice showed strange fertility characteristics.

"Where you would normally expect a female to have eight to 10 pups, there were only one or two pups that survived to term in the litters of females that had one copy of Bub1," said Venkatachalam. "So this was unusual when we were looking for cancer effects, especially in this group of females."

Ordinarily, both copies of a gene in a chromosome must carry the same mutation in order for an organism to be adversely effected, but the drastic effects of a single mutation were unexpected.

Venkatachalam, working with pathologist Robert Donnell at the UT College of Veterinary Medicine and LBNL researcher Francesco Marchetti, also found that the harmful effects of this mutation increased with a mother's age. As the female mice got older, there was eventually a complete loss of their ability to support a full-term pregnancy that lined up with an increase in aneuploidy. The same is true in humans: the chance of having an aneuploid pregnancy increases with the age of the mother.

For the past several years, scientists have used 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."


'/>"/>

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

Related biology news :

1. Iowa State University researchers develop process for surgical genetic changes
2. UCLA researchers discover new molecular pathway for targeting cancer, disease
3. Promising new treatment for Alzheimers suggested based on Hebrew University research
4. Early-life experience linked to chronic diseases later in life: UBC research
5. $20 million NIH grant to transform clinical research at UIC
6. Munich researchers discover new target for tailored antibiotics
7. Baylor researchers unravel mystery of DNA conformation
8. Researchers achieve major breakthrough with water desalination system
9. UA pharmacy research shows prescribers miss potentially dangerous drug pairs
10. Researchers gain insight into mechanism underlying Huntingtons
11. U of A honored for research that could help 30 million Brazilians
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/31/2017)... 31, 2017  Spero Therapeutics, LLC, a biopharmaceutical ... treatment of bacterial infections, today announced it has ... from Pro Bono Bio Ltd (PBB) to bolster ... resistant forms of Gram-negative bacteria.   The assets acquired ... a PBB group company. "The acquisition ...
(Date:1/26/2017)... , Jan. 26, 2017  Crossmatch, a leading provider ... new solution aimed at combatting fraud, waste and abuse ... introduced at the Action on Disaster Relief conference in ... point for UN agencies and foreign assistance organizations throughout ... waste and abuse are a largely unacknowledged problem in ...
(Date:1/25/2017)... 25, 2017 The Elements of Enterprise Information ... is comprised of a comprehensive set of business ... maintaining digital identities and providing a secured and ... are significant number of programs opted by enterprises ... by optimizing processes and changing policies. However, there ...
Breaking Biology News(10 mins):
(Date:2/17/2017)... Feb. 17, 2017  BioGenex, a global leader ... of a novel system for quantitative immunohistochemistry (IHC). ... University of Rochester (NY, USA) and Konica-Minolta Inc. ... system is able to accurately quantify the expression ... epidermal growth factor receptor-2) in clinical samples. Quantitative ...
(Date:2/16/2017)... ... 2017 , ... Avomeen & MichBio will be hosting a BioMixer next week ... Analytical Services (4840 Venture Dr., Ann Arbor, Michigan 48108). BioMixers are a casual, ... interact with peers, make new connections and talk bio biz. , Cost:, ...
(Date:2/16/2017)... , Feb. 16, 2017 Research ... "Synthetic Biology: Global Markets" report to their offering. ... ... (synthetic genes, biobrick parts, delivery plasmids, chassis organisms, synthetic ... and assembly, genome editing, bioinformatics and specialty media) and ...
(Date:2/16/2017)... DIEGO , Feb. 16, 2017  Dermata ... innovative products to treat a variety of dermatological ... million Series 1a financing and entered into a ... (SVB).  Dermata intends to use the capital for ... making major advancements in the treatment of serious ...
Breaking Biology Technology: