Diabetes. 2025 Aug 25:db250209. doi: 10.2337/db25-0209. Online ahead of print.
ABSTRACT
In this study, we investigated a consanguineous family in whom normal-weight individuals had hepatic steatosis and cirrhosis. Using whole-exome sequencing we found two rare homozygous variants in the glucagon receptor (GCGR) gene that cosegregated with the phenotype. In cells, the GCGR mutations result in a loss of function and increased lipid accumulation. These results highlight the potential risks associated with GCGR antagonists and the benefits of GCGR agonists, currently in clinical trials.
PMID:40854221 | DOI:10.2337/db25-0209
