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最初为非胰岛素依赖型糖尿病的胰岛细胞抗体阳性患者的线粒体基因突变。

Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics.

作者信息

Oka Y, Katagiri H, Yazaki Y, Murase T, Kobayashi T

机构信息

Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

出版信息

Lancet. 1993 Aug 28;342(8870):527-8. doi: 10.1016/0140-6736(93)91649-7.

DOI:10.1016/0140-6736(93)91649-7
PMID:8102670
Abstract

Autoimmunity is thought to lead to islet-cell-antibody (ICA) formation in diabetes mellitus. However, we found a mitochondrial gene mutation at nucleotide pair 3243 in 3 of 27 Japanese ICA-positive, initially non-insulin-dependent diabetic patients. All 3 progressed to insulin-dependency within 13-31 months, whereas 5 of the other 24 are non-insulin-dependent after 54-90 months. ICA, at least in these 3 patients, may follow gradual beta-cell destruction due to mitochondrial gene mutation, although the possibility of beta-cells with the mutation being susceptible to autoimmune destruction cannot be excluded.

摘要

自身免疫被认为会导致糖尿病中胰岛细胞抗体(ICA)的形成。然而,我们在27例日本ICA阳性、最初为非胰岛素依赖型糖尿病患者中的3例发现了核苷酸对3243处的线粒体基因突变。这3例患者均在13 - 31个月内进展为胰岛素依赖型,而其他24例中的5例在54 - 90个月后仍为非胰岛素依赖型。ICA,至少在这3例患者中,可能是由于线粒体基因突变导致β细胞逐渐破坏的结果,尽管不能排除携带该突变的β细胞易受自身免疫破坏的可能性。

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