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Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10

Journal of Molecular Cell Biology 2017年第5期9卷 376-383页

作者： Jing Yan Feng Jiang Rong Zhang Tongfu Xu Zhou Zhou Wei Ren Danfeng Peng Yong Liu Cheng Hu Weiping Jia Shanghai Diabetes Institute Shanghai Key Laboratory of Diabetes MeUitus Shanghai Key Clinical Center for Metabolic Diseases Shanghai Jiao Tong University AffiLiated Sixth People's Hospital Shanghai China The Key Laboratory of Nutrition and Metabolism Institute for Nutritional Sciences Shanghai Institutes for Biological Sciences Chinese Academy of Sciences University of the Chinese Academy of Sciences Shanghai China Institute for Metabolic Disease Fengxian Central Hospital Affiliated to Southern Medical University Shanghai China

Monogenic diabetes is often misdiagnosed with type 2 diabetes due to overlapping characteristics. This study aimed to discover novel causative mutations of monogenic diabetes in patients with clinically diagnosed type 2 diabetes and to explore potential molecular mechanisms. Whole-exome sequencing was performed on 31 individuals clinically diagnosed with type 2 diabetes. One novel heterozygous mutation (p.Ala2Thr) inINSwas identified. It was further genotyped in an additional case–control population (6523 cases and 4635 controls), and this variant was observed in 0.09% of cases. Intracellular trafficking of insulin proteins was assessed in INS1-E and HEK293T cells. p.Ala2Thr preproinsulin-GFP was markedly retained in the endoplasmic reticulum (ER) in INS1-E cells. Activation of the PERK–eIF2α–ATF4, IRE1α–XBP1, and ATF6 pathways as well as upregulated ER chaperones were detected in INS1-E cells transfected with the p.Ala2Thr mutant. In conclusion, we identified a causative mutation inINSresponsible for maturity-onset diabetes of the young 10 (MODY10) in a Chinese population and demonstrated that this mutation affected β cell function by inducing ER stress.

关键词： whole-exome sequencing causative mutation MODY10 endoplasmic reticulum stress

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