Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review

Mary Elizabeth Damore, Phyllis W. Speiser, Alfred E. Slonim, Maria I. New, Sara Shanske, Wenlang Xia, Filippo M. Santorelli, Salvatore DiMauro

Research output: Contribution to journalArticle

Abstract

We report a family in which a mother and son were affected with diabetes mellitus and myopathy characterized by ragged red fibers and suggestive of mitochondrial disease. Mitochondrial DNA (mtDNA) analysis of DNA isolated from peripheral blood showed a T→C point mutation at nucleotide position 14709, in the transfer RNA gene for glutamic acid. We review the association of diabetes and mtDNA mutations. This child's case is unusual because of the early onset of diabetes, which is more typical of mtDNA deletions.

Original languageEnglish
Pages (from-to)207-213
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume12
Issue number2
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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    Damore, M. E., Speiser, P. W., Slonim, A. E., New, M. I., Shanske, S., Xia, W., Santorelli, F. M., & DiMauro, S. (1999). Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review. Journal of Pediatric Endocrinology and Metabolism, 12(2), 207-213.