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

研究成果: Article査読

37 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1032-1037
ページ数6
ジャーナルDiabetic Medicine
14
12
DOI
出版ステータスPublished - 1997
外部発表はい

ASJC Scopus subject areas

  • 内科学
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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