Characterization of the MODY3 phenotype - Early-onset diabetes caused by an insulin secretion defect
Characterization of the MODY3 phenotype - Early-onset diabetes caused by an insulin secretion defect
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DOI：
10.1172/jci119199
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发表时间：
1997-02-15
影响因子：
15.9
通讯作者：
Groop, L
中科院分区：
文献类型：
--
作者：
Lehto, M;Tuomi, T;Groop, L
3型糖尿病（MODY）是一种主要的遗传性糖尿病，常被误诊为非胰岛素依赖型糖尿病（NIDDM）或胰岛素依赖型糖尿病（IDDM）。对芬兰四个MODY3大家族（与12q染色体相连，最大lod评分为15）成员的表型分析显示，胰岛素分泌严重受损，这也存在于那些遗传了MODY3基因的血糖正常的家族成员中。与NIDDM患者相比，MODY3患者未表现出胰岛素抵抗综合征的任何特征。他们可以通过缺乏谷氨酸脱羧酶抗体（GAD-Ab）与IDDM患者区分。结合我们最近发现的12号染色体上的这一区域与胰岛素缺乏型NIDDM （NIDDM2）之间的联系，这些数据表明，MODY3/NIDDM2基因突变导致胰岛素分泌反应降低，随后发展为糖尿病，并强调了亚表型分类在糖尿病研究中的重要性。
Maturity-onset diabetes of the young (MODY) type 3 is a dominantly inherited form of diabetes, which is often misdiagnosed as non-insulin-dependent diabetes mellitus (NIDDM) or insulin-dependent diabetes mellitus (IDDM). Phenotypic analysis of members from four large Finnish MODY3 kindreds (linked to chromosome 12q with a maximum lod score of 15) revealed a severe impairment in insulin secretion, which was present also in those normoglycemic family members who had inherited the MODY3 gene. In contrast to patients with NIDDM, MODY3 patients did not show any features of the insulin resistance syndrome. They could be discriminated from patients with IDDM by lack of glutamic acid decarboxylase antibodies (GAD-Ab). Taken together with our recent findings of linkage between this region on chromosome 12 and an insulin-deficient form of NIDDM (NIDDM2), the data suggest that mutations at the MODY3/NIDDM2 gene(s) result in a reduced insulin secretory response, that subsequently progresses to diabetes and underlines the importance of subphenotypic classification in studies of diabetes.