(to match our own mutation)
"What is the normal function of the KCNH2 gene?
The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNH2 protein are active in heart (cardiac) muscle, where they transport potassium ions out of cells. This form of ion transport is involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNH2 protein is also produced in nerve cells and certain immune cells (microglia) in the central nervous system.
The KCNH2 gene is located on the long (q) arm of chromosome 7 between positions 35 and 36.
More precisely, the KCNH2 gene is located from base pair 150,272,981 to base pair 150,305,946 on chromosome 7."
My great-grandfather dropped dead at 33 years old in Bramwell, WV. The doctors said it was a heart attack. But now these Italian doctors hypothesize that maybe it was caused by the above gene mutation. Hypothesis: the mutation was inherited, but during the course of its inheritance, the genome perhaps compensated, and though the mutation remains, something else now makes the protein necessary to the potassium channels.
Friday, 8 January 2010
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