Gene Mutation Associated with Atrial Fibrillation Identified
Locus of atrial fibrillation mapped to chromosome 1p36-p35
WEDNESDAY, July 9 (HealthDay News) -- In a subgroup of patients with atrial fibrillation, the condition is hereditary and has been attributed to a gene mutation that encodes atrial natriuretic peptide, according to study findings published in the July 10 issue of the New England Journal of Medicine.
Denice M. Hodgson-Zingman, M.D., of the University of Iowa in Iowa City, and colleagues studied a family with 11 members clinically affected by atrial fibrillation. The family was white, and of northern European ancestry. The investigators also randomly selected a control group of 560 white subjects of northern European ancestry with normal electrocardiography and echocardiography results.
The locus of atrial fibrillation was mapped to chromosome 1p36-p35, where the researchers identified a heterozygous frameshift mutation in the gene encoding atrial natriuretic peptide. Subjects with the mutation had high concentrations of circulating chimeric atrial natriuretic peptide and the investigators also saw shortened atrial action potentials in an isolated heart model.
"This report implicates perturbation of the atrial natriuretic peptide-cyclic guanosine monophosphate (ANP-cGMP) pathway in cardiac electrical instability," the authors write. "Our findings uncover a novel molecular genetic basis for abnormal repolarization and electrical instability in the cardiac atria, and suggest the ANP-cGMP signaling pathway as a potential therapeutic target."