Impaired hepatic lipid synthesis from polyunsaturated fatty acids in TM6SF2 E167K variant carriers with NAFLD.

Journal of hepatology (2017-02-27)
Panu K Luukkonen, You Zhou, P A Nidhina Haridas, Om P Dwivedi, Tuulia Hyötyläinen, Ashfaq Ali, Anne Juuti, Marja Leivonen, Taru Tukiainen, Linda Ahonen, Emma Scott, Jeremy M Palmer, Johanna Arola, Marju Orho-Melander, Petter Vikman, Quentin M Anstee, Vesa M Olkkonen, Matej Orešič, Leif Groop, Hannele Yki-Järvinen

Carriers of the transmembrane 6 superfamily member 2 E167K gene variant (TM6SF2 Liver biopsies were taken from subjects characterized with respect to the TM6SF2 genotype, serum and liver lipidome, gene expression and histology. In vitro, after TM6SF2 knockdown in HuH-7 cells, we compared incorporation of different fatty acids into TGs, CEs, and PCs. The TM6SF2 Hepatic lipid synthesis from PUFAs is impaired and could contribute to deficiency in PCs and increased intrahepatic TG in TM6SF2 E167K variant carriers.

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