{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:16:26Z","timestamp":1792005386500,"version":"4.4.0"},"reference-count":48,"publisher":"National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2013,2,26]]},"abstract":"<jats:p>\n                    Mutations of both nuclear and mitochondrial DNA (mtDNA)\u2013encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction. Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be modulated by mtDNA variation. We studied a 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an\n                    <jats:italic>SLC25A4<\/jats:italic>\n                    frameshift null mutation (c.523delC, p.Q175RfsX38), which codes for the heart-muscle isoform of the adenine nucleotide translocator\u20131. Ten homozygous null (adenine nucleotide translocator\u20131\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    ) patients monitored over a median of 6 years had a phenotype of progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance, and persistent adrenergic activation. Electrocardiography and echocardiography with velocity vector imaging revealed abnormal contractile mechanics, myocardial repolarization abnormalities, and impaired left ventricular relaxation. End-stage heart disease was characterized by massive, symmetric, concentric cardiac hypertrophy; widespread cardiomyocyte degeneration; overabundant and structurally abnormal mitochondria; extensive subendocardial interstitial fibrosis; and marked hypertrophy of arteriolar smooth muscle. Substantial variability in the progression and severity of heart disease segregated with maternal lineage, and sequencing of mtDNA from five maternal lineages revealed two major European haplogroups, U and H. Patients with the haplogroup U mtDNAs had more rapid and severe cardiomyopathy than those with haplogroup H.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1300690110","type":"journal-article","created":{"date-parts":[[2013,2,11]],"date-time":"2013-02-11T22:48:58Z","timestamp":1360622938000},"page":"3453-3458","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":96,"title":["Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup"],"prefix":"10.1073","volume":"110","author":[{"given":"Kevin A.","family":"Strauss","sequence":"first","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579;"},{"name":"Department of Biology, Franklin and Marshall College, Lancaster, PA 17603;"},{"name":"Lancaster General Hospital, Lancaster, PA 17602;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"DuBiner","sequence":"additional","affiliation":[{"name":"Department of Biology, Franklin and Marshall College, Lancaster, PA 17603;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Simon","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biological Chemistry and Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zaragoza","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biological Chemistry and Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Partho P.","family":"Sengupta","sequence":"additional","affiliation":[{"name":"Mount Sinai Medical Center, New York, NY 10029;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California, Irvine, CA 92697;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navneet","family":"Narula","sequence":"additional","affiliation":[{"name":"Department of Pathology, Weill Cornell Medical College, New York, NY 10019;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Dreike","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biological Chemistry and Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697;"},{"name":"Kapiolani Medical Center for Women and Children, Honolulu, HI 96826;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Platt","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biological Chemistry and Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697;"},{"name":"Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA 94305;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Procaccio","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Biological Chemistry and Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697;"},{"name":"Biochemistry and Genetics Department, National Center for Neurodegenerative and Mitochondrial Diseases, Centre Hospitalier Universitaire d' Angers, 49933 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xilma R.","family":"Ortiz-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Center for Mitochondrial and Epigenomic Medicine, Children\u2019s Hospital of Philadelphia and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik G.","family":"Puffenberger","sequence":"additional","affiliation":[{"name":"Clinic for Special Children, Strasburg, PA 17579;"},{"name":"Department of Biology, Franklin and Marshall College, Lancaster, PA 17603;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard I.","family":"Kelley","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, MD 21205"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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