A rare homozygous mutations in the glucagon receptor (GCGR) gene that lead to loss-of-function and severe deficiency, resulting in early-onset hepatic steatosis and increased adiposity in non-obese individuals. Detailed clinical and molecular analyses in a consanguineous family revealed hallmark metabolic disturbances —markedly elevated glucagon and amino acids, impaired GCGR signaling, and pronounced lipid accumulation in hepatocyte models. Restoration of GCGR function via liver transplantation resolved many features, demonstrating the receptor’s key role in human hepatic lipid metabolism.
These findings underscore potential risks when targeting the GCGR pathway pharmacologically and spotlight rare genetic forms of steatosis as valuable models for unraveling common liver disease mechanisms. To read more Click Here . ##Reference## Cacciottolo TM, Lawler K, Mndez-Acevedo KM, et al.…
