[1]秦晓燕,师萍,管庆波,等.青少年发病的成年型糖尿病分子遗传学研究进展[J].国际内分泌代谢杂志,2022,42(05):382-386.[doi:10.3760/cma.j.cn121383-20210412-04032]
　Qin Xiaoyan,Shi Ping,Guan Qingbo,et al.Advances in molecular genetics of maturity-onset diabetes of the young[J].International Journal of Endocrinology and Metabolism,2022,42(05):382-386.[doi:10.3760/cma.j.cn121383-20210412-04032]
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青少年发病的成年型糖尿病分子遗传学研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
42
期数:
2022年05期
页码:
382-386
栏目:
综述
出版日期:
2022-09-20

文章信息/Info

Title:
Advances in molecular genetics of maturity-onset diabetes of the young
作者:
秦晓燕1; 3; 师萍2; 3; 管庆波1; 2; 3; 赵家军1; 2; 3; 徐潮1; 2; 3
1山东第一医科大学附属省立医院内分泌科,济南 250021; 2山东大学齐鲁医学院附属省立医院内分泌科,济南 250021; 3山东省糖尿病与代谢疾病临床医学研究中心,山东省内分泌与脂代谢重点实验室,山东省内分泌与代谢性疾病防治工程实验室 济南 250021 秦晓燕和师萍为共同第一作者
Author(s):
Qin Xiaoyan1; 3;  Shi Ping2; 3;  Guan Qingbo1; 2; 3;  Zhao Jiajun1; 2; 3;  Xu Chao1; 2; 3.
1Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China; 2Department of Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, China; 3Shandong Clinical Research Center of Diabetes and Metabolic Diseases, Shandong Key Laboratory of Endocrinology and Lipid Metabolism, Shandong Prevention and Control Engineering Laboratory of Endocrine and Metabolic Diseases, Jinan 250021, China
关键词:
青少年发病的成年型糖尿病;  基因突变;  分子遗传学;  胰腺β细胞
Keywords:
Maturity-onset diabetes of the young;  Gene mutation;  Molecular genetic;  Pancreatic β cells
DOI:
10.3760/cma.j.cn121383-20210412-04032
摘要:
青少年发病的成年型糖尿病(MODY)是一种常染色体显性遗传的单基因糖尿病。目前,已经发现了14种突变基因与MODY相关,这些基因直接或间接地在胰岛素的合成和释放通路中起作用,从而影响机体血糖稳态。根据突变基因造成胰岛素在机体作用方式的不同可以选择不同的降糖药物,凭借这一点,可以对该特殊类型糖尿病进行精准治疗。文章就14种MODY亚型的遗传学研究进展进行综述,对各MODY亚型基因突变情况与疾病临床特点进行归纳总结,提出治疗方案并对未来的研究热点提出展望,以提高MODY诊断的准确性,改善患者生活质量。
Abstract:
Maturity-onset diabetes of the young(MODY)is an autosomal dominant monogenic diabetes mellitus. At present, a total of 14 kinds of mutated genes have been found to be related to MODY, and these genes directly or indirectly play roles in insulin synthesis and release pathways, thereby affecting blood glucose homeostasis. Different hypoglycemic drugs can be selected according to the different action modes of insulin in the body caused by mutant genes. This enables precise treatment of this particular type of diabetes. This article summarizes the genetic research progress of 14 kinds of MODY, including the gene mutations of MODY and the clinical characteristics of the disease. In order to improve the accuracy of diagnosis and the quality of life of MODY patients; the treatment plan and future research hotspots are also suggested.

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备注/Memo

备注/Memo:
秦晓燕和师萍为共同第一作者 通信作者:徐潮,Email: doctorxuchao@163.com
更新日期/Last Update: 2022-09-10