Elevated hormone flags liver problems in mice with methylmalonic acidemia
Study findings can immediately be applied to human patients with the disease
Researchers have discovered that a hormone, fibroblast growth factor 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia (MMA), a serious genomic disorder. Based on this finding, medical teams treating patients with MMA will be able to measure FGF21 levels to predict how severely patients’ livers are affected and when to refer patients for liver transplants. The findings also might shed light on more common disorders such as fatty liver disease, obesity and diabetes by uncovering similarities in how MMA and these disorders affect energy metabolism and, more specifically, the function of mitochondria, the cells’ energy powerhouses. The study, conducted by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, was published Dec. 6 in JCI Insight.
“Findings from mouse studies usually take years to translate into health care treatment, but not in this case,” said Charles P. Venditti, M.D., Ph.D., senior author and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. “We can use this information today to ensure that patients with MMA are treated before they develop severe complications.”
An electron micrograph showing abnormally shaped and structured mitochondria in the liver of a mutant mouse that models methylmalonic acidemia.
This page was last updated on Friday, January 21, 2022