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Chronic atrial fibrillation associated with somatic mitochondrial dna mutations in human atrial tissue
  1. Hyung-Wook Park
  1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of
    1. Myung-Geun Shin (mgshin{at}chonnam.ac.kr)
    1. Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Korea, Republic of
      1. Youngkeun Ahn
      1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of
        1. Nam-Ho Kim
        1. Departments of Internal Medicine, Wonkwang University Hospital, Iksan, South Korea, Korea, Republic of
          1. Hye-Ran Kim
          1. Brain Korea 21 Project, Center for Biomedical Human Resources, Chonnam National University, Gwangju,, Korea, Republic of
            1. Jong-Bum Choi
            1. Department of Thoracic and Cardiovascular Surgery, Wonkwang University Hospital, Iksan, South Korea, Korea, Republic of
              1. Jong-Hee Shin
              1. Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National U, Korea, Republic of
                1. Myung-Ho Jeong
                1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of
                  1. Jeong-Gwan Cho
                  1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of
                    1. Jong-Chun Park
                    1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of
                      1. Soon-Pal Suh
                      1. Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National U, Korea, Republic of
                        1. Dong-Wook Ryang
                        1. Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National U, Korea, Republic of
                          1. Jung-Chaee Kang
                          1. Department of Cardiology, Chonnam National University Medical School, Gwangju, South Korea, Korea, Republic of

                            Abstract

                            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.

                            • Blood
                            • Chronic Atrial Fibrillation
                            • Human Atrial Tissue
                            • mtDNA Mutation

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