Novel Method to Treat PACS1 and PACS2 Syndromes
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Alejandro Soto Gutierrez
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University of Pittsburgh researchers have developed a novel in vitro model of metabolic dysfunction-associated steatotic liver disease (MASLD) in patients with genetic mutations (TM6SF2-167K). Mutations to the transmembrane 6 superfamily 2 gene, TM6SF2 (rs58542926) at position 167 are associated with an increased risk of liver-related death. These hepatocytes can accurately model MASLD in humans with TM6SF2-167K mutations, improving the understanding of ESLD and development of treatments for chronic liver disease.
University of Pittsburgh, Kyushu University, and University of Michigan researchers have identified a key pathway involved in the development of cirrhosis with targets to prevent liver disease, thereby reducing the need for liver transplantation.