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SHR Neuro Krebs Kardio Lipid

Stättermayer, AF; Traussnigg, S; Dienes, HP; Aigner, E; Stauber, R; Lackner, K; Hofer, H; Stift, J; Wrba, F; Stadlmayr, A; Datz, C; Strasser, M; Maieron, A; Trauner, M; Ferenci, P.
Hepatic steatosis in Wilson disease--Role of copper and PNPLA3 mutations.
J Hepatol. 2015; 63(1):156-163
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Autor/innen der Med Uni Graz:
Hofer Herwig
Lackner Karoline
Stauber Rudolf
Trauner Michael
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Abstract:
The earliest characteristic alterations of the liver pathology in Wilson disease (WD) include steatosis, which is sometimes indistinguishable from non-alcoholic fatty liver disease (NAFLD). Steatosis in WD may reflect copper-induced mitochondrial dysfunction. A genetic polymorphism in rs738409, in the patatin-like phospholipase domain-containing 3 gene (PNPLA3), is strongly associated with appearance of in NAFLD. This study evaluated the role of PNPLA3 and hepatic copper content for development of steatosis in patients with WD. Liver biopsies obtained at diagnosis and the PNPLA3 genotype were analyzed in 98 Caucasian patients with WD (male: 52 [53.1%]; mean age: 27.6 years [CI 95%: 24.8-30.4, range: 5.8-61.5]). Steatosis was graded as percentage of lipid containing hepatocytes by an expert hepatopathologist unaware of the results of genetic testing. Moderate/severe steatosis (>33% of hepatocytes) was observed in 28 patients (pediatric: n=13/26 [50.0%], adult: n=15/72 [20.8%]; p=0.01). Forty-six patients (46.9%; pediatric: n=7, adult: n=39; p=0.022) had cirrhosis. Multivariate logistic regression identified PNPLA3 G allele (OR: 2.469, CI 95%: 1.203-5.068; p=0.014) and pediatric age (OR: 4.348; 1.577-11.905; p=0.004) as independent variables associated with moderate/severe steatosis. In contrast, hepatic copper content did not impact on moderate/severe steatosis (OR: 1.000, CI 95%: 1.000-1.001; p=0.297). Steatosis is common in WD and the PNPLA3 G allele contributes to its pathogenesis. The role of hepatic copper concentration and ATP7B mutations in steatosis development deserve further investigations. Copyright © 2015 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Adult -
Alleles -
Biopsy -
Child -
Child, Preschool -
Copper - metabolism
DNA - genetics
DNA Mutational Analysis -
Female -
Genetic Predisposition to Disease -
Genotype -
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - metabolism
Hepatolenticular Degeneration - pathology
Humans -
Lipase - genetics
Lipase - metabolism
Liver - metabolism
Liver - pathology
Male -
Membrane Proteins - genetics
Membrane Proteins - metabolism
Middle Aged -
Mutation -
Young Adult -

Find related publications in this database (Keywords)
Wilson disease
PNPLA3
Steatosis
Steatohepatitis
Copper
ATP7B
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