Mitochondrial gene transfer ribonucleic acid (tRNA)(Leu(UUR)) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea

Hyun Chul Lee, Young Duk Song, Hai Ri Li, Jum Ok Park, Hyung Chan Suh, Eunjig Lee, Sungkil Lim, Kyungrae Kim, Kapbum Huh

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

The high prevalence of diabetic patients with a mutation in the mitocbondrial gene (the 3243 and 8344 bp mutations) has been identified in Japan. To determine the prevalence of diabetic patients with those mutations in Korea, we randomly screened selected 503 clinical diabetic patients regardless of their diabetes types. We found only 1 patient with the mitochondrial DNA mutation at position 3243 (percent mutation, 32%), and the mitochondrial DNA mutation at position 8344 was not found in any of the patients. The affected subject was a 22-yr-old man with a history of myoclonic epilepsy and mild sensorineural hearing loss, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose. Because of the low frequency of these mutations in the Korean diabetic population, we concluded that these particular mutations of mitochondrial DNA may not be a common contributor to diabetes mellitus in Korea.

Original languageEnglish
Pages (from-to)372-374
Number of pages3
JournalJournal of Clinical Endocrinology and Metabolism
Volume82
Issue number2
DOIs
Publication statusPublished - 1997 Jan 1

Fingerprint

Gene transfer
Mitochondrial Genes
Korea
Medical problems
Transfer RNA
Mitochondrial DNA
Diabetes Mellitus
Mutation
C-Peptide
Audition
Genes
History
Glucose
Myoclonic Epilepsy
Sensorineural Hearing Loss
Mutation Rate
Japan

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Lee, Hyun Chul ; Song, Young Duk ; Li, Hai Ri ; Park, Jum Ok ; Suh, Hyung Chan ; Lee, Eunjig ; Lim, Sungkil ; Kim, Kyungrae ; Huh, Kapbum. / Mitochondrial gene transfer ribonucleic acid (tRNA)(Leu(UUR)) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea. In: Journal of Clinical Endocrinology and Metabolism. 1997 ; Vol. 82, No. 2. pp. 372-374.
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abstract = "The high prevalence of diabetic patients with a mutation in the mitocbondrial gene (the 3243 and 8344 bp mutations) has been identified in Japan. To determine the prevalence of diabetic patients with those mutations in Korea, we randomly screened selected 503 clinical diabetic patients regardless of their diabetes types. We found only 1 patient with the mitochondrial DNA mutation at position 3243 (percent mutation, 32{\%}), and the mitochondrial DNA mutation at position 8344 was not found in any of the patients. The affected subject was a 22-yr-old man with a history of myoclonic epilepsy and mild sensorineural hearing loss, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose. Because of the low frequency of these mutations in the Korean diabetic population, we concluded that these particular mutations of mitochondrial DNA may not be a common contributor to diabetes mellitus in Korea.",
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Mitochondrial gene transfer ribonucleic acid (tRNA)(Leu(UUR)) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea. / Lee, Hyun Chul; Song, Young Duk; Li, Hai Ri; Park, Jum Ok; Suh, Hyung Chan; Lee, Eunjig; Lim, Sungkil; Kim, Kyungrae; Huh, Kapbum.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 82, No. 2, 01.01.1997, p. 372-374.

Research output: Contribution to journalArticle

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AU - Lee, Hyun Chul

AU - Song, Young Duk

AU - Li, Hai Ri

AU - Park, Jum Ok

AU - Suh, Hyung Chan

AU - Lee, Eunjig

AU - Lim, Sungkil

AU - Kim, Kyungrae

AU - Huh, Kapbum

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N2 - The high prevalence of diabetic patients with a mutation in the mitocbondrial gene (the 3243 and 8344 bp mutations) has been identified in Japan. To determine the prevalence of diabetic patients with those mutations in Korea, we randomly screened selected 503 clinical diabetic patients regardless of their diabetes types. We found only 1 patient with the mitochondrial DNA mutation at position 3243 (percent mutation, 32%), and the mitochondrial DNA mutation at position 8344 was not found in any of the patients. The affected subject was a 22-yr-old man with a history of myoclonic epilepsy and mild sensorineural hearing loss, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose. Because of the low frequency of these mutations in the Korean diabetic population, we concluded that these particular mutations of mitochondrial DNA may not be a common contributor to diabetes mellitus in Korea.

AB - The high prevalence of diabetic patients with a mutation in the mitocbondrial gene (the 3243 and 8344 bp mutations) has been identified in Japan. To determine the prevalence of diabetic patients with those mutations in Korea, we randomly screened selected 503 clinical diabetic patients regardless of their diabetes types. We found only 1 patient with the mitochondrial DNA mutation at position 3243 (percent mutation, 32%), and the mitochondrial DNA mutation at position 8344 was not found in any of the patients. The affected subject was a 22-yr-old man with a history of myoclonic epilepsy and mild sensorineural hearing loss, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose. Because of the low frequency of these mutations in the Korean diabetic population, we concluded that these particular mutations of mitochondrial DNA may not be a common contributor to diabetes mellitus in Korea.

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