Diabetes with GLP-1R polymorphism (rs3765467) accompanied by myotonic dystrophy: A case of myotonic dystrophy with p.R131Q polymorphism at the glucagon-like peptide-1 receptor (rs3765467) resulting in marked effects of its agonist, dulaglutide.

Kanako Kato, Teruo Jojima, Takahiko Kogai, Dai Tanuma, Takafumi Niitani, Shintaro Sakurai, Toshie Iijima, Takuya Tomaru, Isao Usui, Yoshimasa Aso
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Abstract

A 47-year-old woman was diagnosed with myotonic dystrophy when admitted for traumatic subarachnoid hemorrhage. Her glycemic control was poor despite administration of pioglitazone, a PPARɤ agonist, and subcutaneous insulin infusion. However, adding a GLP-1 receptor (GLP-1R) agonist markedly improved blood glucose levels, resulting in eventual insulin withdrawal. Genetic testing revealed a heterozygous variant, p.R131Q, in the GLP1R (rs3765467), a common variant in Asia. This variant is known to be associated with increased endogenous insulin from beta cells in response to exogenous GLP-1 infusion. This is the first report and short review of a Japanese case of myotonic dystrophy accompanied by GLP-1R gene polymorphism.

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糖尿病患者GLP-1R多态性(rs3765467)伴肌营养不良:一例胰高血糖素样肽-1 受体(rs3765467)p.R131Q 多态性导致其激动剂度拉鲁肽效果显著的肌营养不良患者。
一名 47 岁的女性因外伤性蛛网膜下腔出血入院,被诊断为肌营养不良症。尽管她服用了吡格列酮这种 PPARɤ激动剂并皮下注射胰岛素,但血糖控制不佳。然而,加入 GLP-1 受体(GLP-1R)激动剂后,血糖水平明显改善,最终停用了胰岛素。基因检测发现,GLP1R(rs3765467)中存在一个杂合变体 p.R131Q,这在亚洲是一个常见变体。据了解,该变异与β细胞对外源性 GLP-1 输注的内源性胰岛素增加有关。这是日本首例伴有 GLP-1R 基因多态性的肌营养不良病例的报告和简短综述。
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