Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNALeu(UUR) region

K. Tsukuda, Y. Suzuki, K. Kameoka, N. Osawa, Y. Goto, H. Katagiri, T. Asano, Y. Yazaki, Y. Oka

Research output: Contribution to journalArticlepeer-review

38 Citations (Scopus)


To investigate the prevalence and clinical characteristics of diabetes mellitus caused by mitochondrial gene mutations in the tRNALeu(UUR) region, a known 'hot spot' for pathogenic mutations, we screened 440 diabetic patients with diabetic mothers for 11 mitochondrial gene mutations reported in mitochondrial neuromuscular disorders; nucleotide pairs (np) 3250, 3251, 3252, 3254, 3256, 3260, 3271, 3291, 3302 and 3303 in addition to an A to G transition at np 3243. The dot-blot hybridization method using 32P-labelled sequence-specific oligonucleotides as probes was used. One subject carrying a T to C transition at np 3271 and seven carrying the A to G transition at np 3243 were identified, while none of the other diabetic patients screened had these mutations in the tRNALeu(UUR) region. The patient with the 3271 mutation, a 39-year-old male, had excellent glycaemic control with diet alone and had neither hearing impairment nor symptoms suggesting mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Thus, among patients with maternally transmitted diabetes, the prevalence of the 3271 mutation was approximately one-seventh that of the 3243 mutation, and other mutations are even more rare in the mitochondrial tRNALeu(UUR) region.

Original languageEnglish
Pages (from-to)1032-1037
Number of pages6
JournalDiabetic Medicine
Issue number12
Publication statusPublished - 1997
Externally publishedYes


  • Diabetes mellitus
  • Dot-blot hybridization
  • Mitochondrial mutation
  • Sequence-specific oligonucleotide

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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