Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations

The NAFLD and dyslipidemia phenotypes are associated with a heterozygous stop codon mutation in a large Italian family. The affected individuals with monoallelic mutations (Hetero) as well as homozygous individuals (homo) in six additional families show the presence of lipid droplets (red) in leukocytes after incubation with oleic acid (Jordans bodies).

Source: Journal of Hepatology - April 3, 2019 Category: Gastroenterology Authors: Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Sara Pajouhanfar, Soheila Sotoudeh, Parvin Mansouri, Davoud Amirkashani, Sirous Zeinali, Michael A. Levine, Ketty Peris, Roberto Colombo, Jouni Uitto Source Type: research