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首页> 外文期刊>Journal of the Endocrine Society. >Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2
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Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2

机译：患有IRS2 13q34qter染色体微缺失的患者的早期糖尿病

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摘要

Diabetes mellitus is a multifactorial disease caused by a complex interaction of environmental and genetic factors. Some diabetes mellitus cases, however, are caused by a limited number of mutant genes. Chromosome 13q deletion syndrome, an extremely rare genetic disorder, is caused by structural and functional monosomy of the 13q chromosomal region. We report the case of a 38-year-old Japanese man with Chr13q deletion (a mosaic pattern with heterozygous ring Chr13q) who developed diabetes mellitus. Early-onset diabetes mellitus developed in this patient because of insulin resistance and a lack of adequate insulin secretion. Microarray analysis identified a 4.8-Mb deletion of distal Chr13q, leading to a copy number loss of 40 genes. Among those genes, the insulin receptor substrate 2 gene ( IRS2 ) was the most likely causative candidate for the development of diabetes mellitus in this patient, based on the model of IRS2 knockout mice, which have abnormal glucose and insulin homeostasis closely resembling the human diabetes phenotype. These data provide important information regarding the contribution of a microdeletion of Chr13q, including in IRS2 , to the pathogenesis of diabetes mellitus in humans.
机译：糖尿病是由环境和遗传因素的复杂相互作用引起的多因素疾病。但是，某些糖尿病病例是由数量有限的突变基因引起的。 13q染色体缺失综合征是一种极为罕见的遗传疾病，是由13q染色体区域的结构和功能单体性引起的。我们报道了一名38岁的日本男子，患有Chr13q缺失（带有杂合环Chr13q的镶嵌模式）并发展为糖尿病的情况。该患者因胰岛素抵抗和缺乏足够的胰岛素分泌而发展为早期发作的糖尿病。微阵列分析鉴定了远端Chr13q的4.8-Mb缺失，导致40个基因的拷贝数丢失。在这些基因中，根据IRS2基因敲除小鼠的模型，胰岛素受体底物2基因（IRS2）是该患者糖尿病发展的最可能的原因候选者，该模型具有异常的葡萄糖和胰岛素稳态，非常类似于人类糖尿病表型。这些数据提供了有关Chr13q微缺失（包括IRS2）对人类糖尿病发病机理的重要信息。

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