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.
作者信息
Kato Kanako, Jojima Teruo, Kogai Takahiko, Tanuma Dai, Niitani Takafumi, Sakurai Shintaro, Iijima Toshie, Tomaru Takuya, Usui Isao, Aso Yoshimasa
机构信息
Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan; Department of Endocrinology and Metabolism, Sekishinkai Hospital, 2-37-20 Irumagawa Sayama, Saitama, 350-1305,Japan.
Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.
出版信息
Am J Med Sci. 2025 Jan;369(1):126-130. doi: 10.1016/j.amjms.2024.06.030. Epub 2024 Jul 8.
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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