Steatogenesis in adult-onset XXXX is associated with down-regulation of @entity5601

@entity1 @entity1560 @entity28 @entity22374 @entity24592 @entity74 @entity5601 @entity3205 @entity4210 @entity2459
UNASSIGNED: @entity24592 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its @entity74 causes adult-onset @entity22374 ( @entity24592 ). @entity24592 is one of the @entity3205 characterized by @entity2459 due to reduced argininosuccinate synthase activity. This disorder is frequently accompanied with hepatosteatosis in the absence of @entity28 and ethanol consumption. However, the precise mechanism of steatogenesis remains unclear. The expression of genes associated with fatty acid (FA) and triglyceride (TG) metabolism was examined using liver samples obtained from 16 @entity24592 @entity1 and compared with 7 healthy individuals. Although expression of hepatic genes associated with lipogenesis and TG hydrolysis was not changed, the mRNAs encoding enzymes/proteins involved in FA oxidation (carnitine palmitoyl-CoA transferase 1a, medium- and very-long-chain acyl-CoA dehydrogenases, and acyl-CoA oxidase 1), very-low-density lipoprotein secretion (microsomal TG transfer protein), and FA transport ( @entity4210 and FA-binding protein 1), were markedly suppressed in @entity24592 patients. Serum concentrations of ketone bodies were also decreased in these @entity1 , suggesting reduced mitochondrial b-oxidation activity. Consistent with these findings, the expression of @entity5601 ( @entity5601 ), a master regulator of hepatic lipid metabolism, was significantly down-regulated. Hepatic @entity5601 expression was inversely correlated with severity of @entity1560 and circulating ammonia and citrulline levels. Additionally, phosphorylation of c-Jun-N-terminal kinase was enhanced in @entity24592 livers, which was likely associated with lower hepatic @entity5601 . Collectively, down-regulation of @entity5601 is associated with steatogenesis in @entity24592 @entity1 . These findings provide a novel link between @entity3205 , lipid metabolism, and @entity5601 .
