Absence of PNET formation and normal longevity in a mouse model of Mahvash disease.

ABSTRACT: Mahvash disease, a rare autosomal recessive metabolic disorder characterized by biallelic loss-of-function mutations in the glucagon receptor gene (GCGR), induces significant pancreatic hyperglucagonemia, resulting in α-cell hyperplasia and occasional hypoglycemia. Utilizing CRISPR-Cas9 technology, we engineered a mouse model, designated as Gcgr ^V369M/V369M, harboring a homozygous V369M substitution in the glucagon receptor (GCGR). Although wild-type (WT) and Gcgr ^V369M/V369M mice exhibited no discernible difference in appearance or weight, adult Gcgr ^V369M/V369M mice, approximately 12 months of age, displayed a notable decrease in fasting blood glucose levels and elevated the levels of cholesterol and low-density lipoprotein-cho

SUBMITTER: Xu Y 

PROVIDER: S-EPMC11336617 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature