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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 · 2025
Last updated 2026-05-28A 47-year-old woman with myotonic dystrophy and poor blood sugar control saw significant improvement after adding a GLP-1 drug called dulaglutide, allowing her to stop insulin injections. Genetic testing found she had a specific variant in the GLP-1 receptor gene (p.R131Q), which is common in Asia and linked to stronger insulin responses to GLP-1 drugs.
AI summary of the abstract below.
| Journal | Am J Med Sci, 2025 |
|---|---|
| Citations | 1 |
| Molecules | dulaglutide |
| Conditions studied | Type 2 Diabetes |
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.
Verbatim abstract via PubMed 38986908 ↗
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