{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:21:17Z","timestamp":1790788877023,"version":"4.1.0"},"reference-count":35,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5699","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2004,11,12]]},"abstract":"<jats:p>\n                    Hypertension and dyslipidemia are risk factors for atherosclerosis and occur together more often than expected by chance. Although this clustering suggests shared causation, unifying factors remain unknown. We describe a large kindred with a syndrome including hypertension, hypercholesterolemia, and hypomagnesemia. Each phenotype is transmitted on the maternal lineage with a pattern indicating mitochondrial inheritance. Analysis of the mitochondrial genome of the maternal lineage identified a homoplasmic mutation substituting cytidine for uridine immediately 5\u2032 to the mitochondrial transfer RNA\n                    <jats:sup>Ile<\/jats:sup>\n                    anticodon. Uridine at this position is nearly invariate among transfer RNAs because of its role in stabilizing the anticodon loop. Given the known loss of mitochondrial function with aging, these findings may have implications for the common clustering of these metabolic disorders.\n                  <\/jats:p>","DOI":"10.1126\/science.1102521","type":"journal-article","created":{"date-parts":[[2004,10,21]],"date-time":"2004-10-21T20:25:38Z","timestamp":1098390338000},"page":"1190-1194","source":"Crossref","is-referenced-by-count":292,"title":["A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA"],"prefix":"10.1126","volume":"306","author":[{"given":"Frederick H.","family":"Wilson","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Internal Medicine, Yale 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Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Biostatistics, Yale University School of Medicine, New Haven, CT 06510, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06510, USA."},{"name":"Department of Internal 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