Dec. 7 (UPI) -- Researchers found that elevated levels of a specific hormone may indicate a rare liver condition, according to new research with mice.
The National Human Genome Research Institute, or NHGRI, published its findings Thursday 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, senior author and a 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."
They discovered mice with liver disease have high levels of fibroblast growth factor 21, or FGF21, and imitate the same condition in humans afflicted with the genome disease methylmalonic acidemia, or MMA.
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The researchers developed a mouse model that simulated a metabolic emergency in a human MMA patient and observed how severely it damaged the animal's liver.
Researchers hope the discovery will allow doctors to treat patients with MMA by measuring their levels of FGF21 to gauge how badly their livers have been damaged.
MMA damages a person's capability to break down food and fatty acids. About one in 50,000 children in the U.S. suffer from MMA, according to the National Institutes of Health. The disease can normally be diagnosed in newborns through a screening.
For those children, a minor virus or dietary imbalance could lead to a life-threatening metabolic event.
"We found that having MMA, whether in a mouse or person, causes stress pathways to be chronically activated and can impair their ability to respond to acute stress," said Irini Manoli, lead author of the study and an associate investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch. "Our new markers can accurately predict how effective a therapy, whether cellular or genomic, might be for the patients."
