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Periodic Paralysis Study Reveals Gene Causing Disorder
Date:1/8/2010

Scientists have identified a gene underlying a disease that causes temporary paralysis of skeletal muscle. The finding, they say, illustrates how investigations of rare genetic diseases can drive insights into more common ones.

(Vocus) January 7, 2010 -- Scientists have identified a gene underlying a disease that causes temporary paralysis of skeletal muscle. The finding, they say, illustrates how investigations of rare genetic diseases can drive insights into more common ones.

The finding is reported in the January 8, 2010 issue of the journal Cell.

The disease, known as thyrotoxic hypokalemic periodic paralysis, causes acute attacks of weakness in muscles that control movement. Symptoms range from difficulty grasping objects or rising from a lying position to incapacitating weakness of the body that prevents movement. The condition lasts from hours to days.

Scientists have known that TPP occurs when certain people with an overactive thyroid are exposed to environmental stresses, such as resting of the muscles after exercise, stress, or low potassium levels in blood after eating a large carbohydrate meal. Treatment of the hyperthyroidism controls the disorder.

However, scientists have been puzzled by the disease. Patients often don’t have the clinical symptoms of hyperthyroidism, such as bulging eyes, loss of hair and increased sweating.

Symptoms of TPP are identical to those seen in a disease known as familial hypokalemic periodic paralysis, one of several rare, inherited periodic paralysis disorders resulting from mutations in a family of genes coding for ion channels, which regulate electrical currents between cells. In response to the same environmental factors that precipitate attacks in TPP patients, those who inherit hypoKPP develop the same form of temporary paralysis. In contrast to TPP patients, however, familial hypoKPP patients do not
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