Article
The PNPLA3 I148M variant increases ketogenesis and decreases hepatic de novo lipogenesis and mitochondrial function in humans.
Cell metabolism - 7 Nov 2023
Luukkonen Panu K, Porthan Kimmo, Ahlholm Noora, Rosqvist Fredrik, Dufour Sylvie, Zhang Xian-Man, Lehtimäki Tiina E, Seppänen Wenla, Orho-Melander Marju, Hodson Leanne, Petersen Kitt Falk, Shulman Gerald I, Yki-Järvinen Hannele
Abstract excerpt
The PNPLA3 I148M variant is the major genetic risk factor for all stages of fatty liver disease, but the underlying pathophysiology remains unclear. We studied the effect of this variant on hepatic metabolism in homozygous carriers and non-carriers under multiple physiological conditions with state-of-the-art stable isotope techniques. After an overnight fast, carriers had higher plasma β-hydroxybutyrate...
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