• Am. J. Med. Sci. · Jul 2024

    Review

    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, and Yoshimasa Aso.
    • 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.
    • Am. J. Med. Sci. 2024 Jul 8.

    AbstractA 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.Copyright © 2024 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

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