Gene identified in Wolff-Parkinson-White syndrome
The New England Journal of Medicine. (2001). 344(24): 1823-31. doi: 10.1056/NEJM200106143442403
By: Michael H. Gollob, Martin S. Green, Anthony S.-L. Tang, Tanya Gollob, Akihiko Karibe, Al-Sayegh Hassan, Ferhaan Ahmad, Ryan Lozado, Gopi Shah, Lameh Fanazpazir, Linda L. Bachinski, Terry Tapscott, Oscar Gonzales, David Begley, Saidi Mohiddin, and Robert Roberts. |
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Wolff-Parkinson White (WPW) syndrome is a disease found in roughly 2 in a 1000 people in Western countries and is characterized by episodes of rapid heart rate that begin in the upper chambers of the heart. These episodes may cause shortness of breath, lightheadness, dizziness, blurred vision, fainting, and in some cases sudden death. These symptoms are a result of an accessory pathway in the heart that causes the heart's electrical signal to take a different route and thus cause an abnormal heart rhythm.
Dr. Michael Gollob's research team conducted detailed medical histories, physicals, intensive monitoring of the electrical activity of the heart, and took sonograms of the heart on two families, comprised of 70 total members. Since a total of 31 affected individuals were seen over five generations, it appeared that the inheritance of WPW syndrome was dominant. This means that parents have a higher chance of passing the disease on to their children.
In order to determine the gene mutation responsible for WPW syndrome, the research team extracted DNA from the blood samples of all family members. The variation of this DNA was analyzed to determine that the disease-causing location was the gamma2 subunit of AMP-activated protein kinase gene, otherwise known as prkag2 . Mutation in this prkag2 gene was found to affect the regulation of the AMP-activated protein kinase protein, which serves to maintain cellular energy homeostasis in the cell. Future research on this topic may involve the identification of any other proteins that are affected by mutation to the prkag2 gene, and a better understanding of how we can treat and control WPW syndrome.
Margaret Beatka ([email protected])
Page Last Updated: 4/25/13
This web page was produced as an assignment for Genetics 677, as an undergraduate course at UW-Madison.
Page Last Updated: 4/25/13
This web page was produced as an assignment for Genetics 677, as an undergraduate course at UW-Madison.