Key result
Sequencing of atrial tissue and lymphocytes from 10 patients with lone atrial fibrillation identified a novel somatic frameshift mutation in the Cx43 gene in 1 patient, indicating genetic mosaicism.
Why the study?
Are atrial tissue-specific genetic defects in Cx43 associated with sporadic cases of lone atrial fibrillation?
Population
10 unrelated subjects with nonfamilial, lone atrial fibrillation who had undergone surgical pulmonary vein…
Design
Preclinical
Authors
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Potential Cx43 mosaicism in lone AF merits targeted investigation; leaves open broader mechanistic role pending larger studies.
Observational (n=10)
Are atrial tissue-specific genetic defects in Cx43 associated with sporadic cases of lone atrial fibrillation?
Somatic genetic defects in Cx43 (genetic mosaicism) may be a potential cause of sporadic, nonfamilial lone atrial fibrillation by creating heterogeneous coupling patterns.
Thibodeau et al. (2010) conducted an observational in Nonfamilial, lone atrial fibrillation (n=10). Atrial tissue-specific genetic defects (Cx43 mutation) was evaluated on Identification of genetic mutations in the Cx43 gene (GJA1) from atrial tissue vs lymphocytes. Sequencing of atrial tissue and lymphocytes from 10 patients with lone atrial fibrillation identified a novel somatic frameshift mutation in the Cx43 gene in 1 patient, indicating genetic mosaicism.
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