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Gene mutation identified for inherited pain syndrome

Researchers have identified the single mutation of the gene involved in causing// the condition of inherited pain syndrome or primary erythromelalgia.

Investigators from Yale School of Medicine have reported in their research findings that the single mutation of the gene for sodium channel Nav1.7 is responsible for people to suffer from the chronic condition of primary erythromelalgia. Researchers have studied the DNA samples from 36 members of a same family in which 17 members suffer from the condition. The genetic mutation makes the pain sensing neurons to be hyper excited and trigger rapids signals even at lower than normal stimulating sensations.

Primary erythromelalgia is a disorder where the symptoms are intense burning pain felt in the hands and feet. The other symptoms of the condition are redness, sensations of heat, and swelling. Anything like standing, walking, exposure to heat may trigger an episode of sudden pain. An inherited condition, erythromelalgia may be only symptomatically treated.

Previous studies have identified two mutations in the gene coding for sodium channel Nav1.7 that is linked with erythromelalgia. The new study identifies the new mutation of the gene responsible. The identification of the mutations of the gene makes it easier to develop treatment for this condition which otherwise had no treatments.

Reference: Brain, July 2005

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