A cluster of metabolic defects caused by mutation in a mitochondrial tRNA

Science

Volumn 306, Issue 5699, 2004, Pages 1190-1194

  Wilson, Frederick H ^a   Hariri, Ali ^a   Farhi, Anita ^a   Zhao, Hongyu ^a   Petersen, Kitt Falk ^a   Toka, Hakan R ^a   Nelson Williams, Carol ^a   Raja, Khalid M ^b   Kashgarian, Michael ^a   Shulman, Gerald I ^a   Scheinman, Steven J ^b   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b State University of New York Upstate Medical University: College of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGING OF MATERIALS; GENES; METABOLISM; MUTAGENESIS;

DYSLIPIDEMIA; HYPERTENSION; MITOCHONDRIAL TRNA;

RNA;

CYTIDINE; MITOCHONDRIAL RNA; TRANSFER RNA; URIDINE;

BIOLOGY;

ADULT; AGING; ANTICODON; ARTICLE; CONTROLLED STUDY; DISEASE TRANSMISSION; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; HUMAN; HYPERCHOLESTEROLEMIA; HYPERTENSION; HYPOMAGNESEMIA; METABOLIC DISORDER; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGING; ANTICODON; BODY MASS INDEX; CLUSTER ANALYSIS; CYTIDINE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HUMANS; HYPERCHOLESTEROLEMIA; HYPERTENSION; MAGNESIUM; MALE; METABOLIC SYNDROME X; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIA, MUSCLE; MUSCLE FIBERS; MUTATION; PEDIGREE; PHENOTYPE; RNA; RNA, TRANSFER, ILE; SYNDROME; THYMIDINE; URIDINE;

EID: 8444228909     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1102521     Document Type: Article

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35. We thank the members of K129 for their generous participation in this project; I. Beerman, C. Mendenhall, and F. Niazi for assistance with patient evaluation; D. Befroy and S. Dufour for assistance with spectroscopy; C. Ariyan and J. Kim for help with muscle biopsy; C. Garganta for measurement of urinary amino acids and organic acids; the staff of the Yale General Clinical Research Center; and A. Gharavi for helpful discussions. Supported by NIH grant nos. MO1 RR-00125, P50 HL-55007, and R01 DK-49230. A.H. is the recipient of an American Heart Association Fellowship (no. 0475003N).