Chinese researchers have identified for the first time a genetic mutation
that results in the rapid, irregular heartbeat that characterizes atrial fibrillation
(AF) (Science. 2003;299:251-254).
Scientists from Tongji University and the Chinese National Human Genome
Center, both in Shanghai, studied 44 members of a four-generation family in
China that had a history of AF. They found that all 16 family members with
AF (but not unaffected family members) had a specific mutation in the KCNQ1 gene. This gene encodes a protein component of an
ion channel that controls the movement of potassium ions in and out of cells.
Stephenson J. Plague Rapid Diagnostic Test. JAMA. 2003;289(6):691. doi:10.1001/jama.289.6.691-a