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Common genetic mutation increases sodium retention, blood pressure
Date:5/29/2012

h colleagues at University of Michigan Medical School, Ann Arbor; University of Torino and University of Padova, Italy; University of Texas Southwestern Medical Center, Dallas; and Keio University,Tokyo linked the gene to aldosterone production.

Now the GHSU Adrenal Center is moving forward with studies to determine why women with adrenal tumors have more of the mutated gene Rainey suspects it's estrogen-related. They also want to know if any of the dozen potassium channel inhibitors already on the market for heart and other disorders can help these patients as well.

Rainey said the gene mutation is one that occurs after birth when most mutations occur and the cause is unknown. About half the people who produce too much aldosterone have tumors, which tend to affect only one of the 2-by-1-inch glands that sit like hats on top of the two kidneys and surgical removal typically fixes their problem. Unexplained enlargement of both glands likely also has a genetic basis and may be medically managed, Rainey said.

One of the many goals of the GHSU Adrenal Center, one of a handful of multidisciplinary centers in the nation, is to better define genes which can result in whole families being impacted. To date, only three genes are known to contribute to the familial form. Aldosterone excess, by whatever means, also is suspected when people under age 40 become hypertensive for no other obvious reason.

The adrenals are extremly efficient glands, producing three additional hormone groups that help maintain homeostasis including cortisol needed for glucose/carbohydrate metabolism, weak sex steroids that likely are the major source of androgens, or male hormones, in women; and the fight or flight hormones epinephrine and norepinephrine. In the event both glands are removed, the vital hormones must be supplemented, Rainey said.

Patients typically come to the GHSU Adrenal Center with unexplained hypertension that isn't responding to
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Contact: Toni Baker
tbaker@georgiahealth.edu
706-721-4421
Georgia Health Sciences University
Source:Eurekalert  

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