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

doi:10.1016/j.amjms.2024.06.030

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

Am J Med Sci. 2024 Jul 8:S0002-9629(24)01333-8. doi: 10.1016/j.amjms.2024.06.030. Online ahead of print.

Authors

Kanako Kato¹, Teruo Jojima², Takahiko Kogai³, Dai Tanuma⁴, Takafumi Niitani⁴, Shintaro Sakurai⁴, Toshie Iijima⁴, Takuya Tomaru⁴, Isao Usui⁴, Yoshimasa Aso⁴

Affiliations

¹ 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.
² Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. Electronic address: [email protected].
³ Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan. Electronic address: [email protected].
⁴ Department of Endocrinology and Metabolism, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi, 321-0293, Japan.

PMID: 38986908
DOI: 10.1016/j.amjms.2024.06.030

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.

Keywords: Diabetes mellitus; Missense of p. R131Q polymorphism at GLP-1 receptor; Myotonic dystrophy.

Publication types

Review