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Mutation in gene that's critical for human development linked to arrhythmia
Date:12/27/2011

, found that slight alterations in the structure of the Tbx3 gene alter the level of the protein in mice. When this happens, it can impair the electrical signal in the sinoatrial node and block the atrioventricular node, which conducts electrical signals from the atria to the ventricles. The result is lethal arrhythmias in embryonic and adult mice.

This discovery has implications for the potential to regenerate functional heart tissue, according to Moon. "There's a big effort to regenerate heart muscle," she says. "But if the muscle can't conduct electrical signals, it's not going to do any good; we also need to be able to regenerate conduction tissues to regulate that muscle."

Arrhythmia is not the first problem related to mutations in the TBX3 gene. In humans, TBX3 mutations have been shown to cause limb malformations in people with ulnar-mammary syndrome, an inherited birth disorder characterized by abnormalities of the bones in the hands and forearms and underdeveloped sweat and mammary glands.

In her future research, Moon wants to discover specifically how Tbx3 regulates the behavior of cells in the cardiac conduction system and whether cells that don't have enough Tbx3 die or turn into some other kind of cells.

"It turns out that Tbx3 is a lot more important in the heart than we realized," Moon says.


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Contact: Phil Sahm
phil.sahm@hsc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

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