Mayo Clinic discovers rare gene mutation that causes fatty liver disease

Scientists at Mayo Clinic have made an important discovery about fatty liver disease. This disease, now called metabolic dysfunction-associated steatotic liver disease, happens when too much fat builds up in the liver. Doctors used to think this was mostly because of lifestyle and genes together. But now, they found that a single gene mutation can sometimes be the direct cause. The researchers looked at a gene called MET, which helps the liver repair itself and process fat. When this gene doesn't work right, fat starts to accumulate in the liver cells. This can cause inflammation, which is when the liver gets swollen and damaged. Over time, this can lead to serious problems like scarring and even liver cancer. This disease affects many people around the world. The scientists hope this discovery will help them find new ways to treat the disease by targeting the MET gene. They started their research by studying a woman and her father who both had a severe form of the disease, but they didn't have the usual risk factors like diabetes. This led them to do a detailed genetic analysis and find the key genetic variant. This provides new insights into the disease's pathogenesis.