Somatically acquired mitochondrial DNA (mtDNA) mutations have been linked to aging, degenerative diseases, cancer and organ dysfunction. We investigated mtDNA alterations in matched atrial tissues and blood samples from four patients with chronic atrial fibrillation (cAF) and two matched patients without cAF. Nine novel mtDNA mutations were observed in mtDNA control and coding region. Interestingly, two patients with cAF had tissue-specific length heteroplasmic mutations from nucleotide16184 - 16193 of the poly-C tract and CA repeats starting at nucleotide 514. A 9-bp deletion (nucleotide 8271-8279) in the mtDNA COII gene was only found in tissues and blood cells from two patients with cAF. In patients with cAF, mtDNA mutations, including small deletions and tissue-specific length heteroplasmic mutations, occurred in both mtDNA control and coding regions. These findings strongly suggest that mtDNA mutations may play a crucial role in atrial dysfunction in patients with cAF.
- Chronic Atrial Fibrillation
- Human Atrial Tissue
- mtDNA Mutation
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