https://scholars.lib.ntu.edu.tw/handle/123456789/579138
標題: | Mitochondrial gene mutations in patients with insulin-dependent diabetes mellitus in Taiwan | 作者: | LEE-MING CHUANG HUEY-PEIR WU Tsai W.-Y. Lai C.-S. TONG-YUAN TAI Lin B.J. |
公開日期: | 1996 | 出版社: | Lippincott Williams and Wilkins | 卷: | 12 | 期: | 3 | 起(迄)頁: | 243-247 | 來源出版物: | Pancreas | 摘要: | We studied the prevalence of mitochondrial gene mutations in subjects with insulin-dependent diabetes mellitus (IDDM) in a Chinese population living in Taiwan. Eighty-four subjects with insulin-dependent diabetes mellitus and 105 unrelated normal controls were recruited in the present study. Both an A-to- G mutation at position 3243 and a mutation at position 8,344 of the mitochondrial DNA were screened by polymerase chain reaction-restriction fragment length polymorphism methods and confirmed by direct DNA sequence analysis. The insulin secretory response was assessed by the C-peptide response to glucagon administration. Among 84 IDDM patients, two (2.4%) subjects were found to carry the 3,243 nucleotide pair (np) mutation. There was no np 8,344 mutation in this series. Of the two subjects carrying a mitochondrial gene mutation, case 1 manifested initially as gestational diabetes mellitus. Manifestation of case 2 was consistent with MELAS, a syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke- like episodes. The pancreatic β cell reserve was reduced, as the glucagon- stimulated C-peptide response was very low in these two cases. HLA genotyping studies revealed that case 2 carried DRB1*0301-DQA1*0501- DQB*0201/DRB1*0405-DQA1*0301-DQB1*0302, which was the most susceptible genotype to IDDM in our population. Anti-GAD65 antibody was also positive in this patient. In addition to the nuclear genes, a defective mitochondrial gene might contribute to some of the clinical cases with IDDM. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029886392&doi=10.1097%2f00006676-199604000-00006&partnerID=40&md5=6d1589725b9d351da7de6a5e1276b059 https://scholars.lib.ntu.edu.tw/handle/123456789/579138 |
ISSN: | 0885-3177 | DOI: | 10.1097/00006676-199604000-00006 | SDG/關鍵字: | mitochondrial DNA; article; controlled study; DNA sequence; gene mutation; HLA system; human; insulin dependent diabetes mellitus; major clinical study; pancreas islet beta cell; priority journal; Taiwan |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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