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

PK Luukkonen, Y Zhou, PAN Haridas, OP Dwivedi… - Journal of …, 2017 - Elsevier
Background Carriers of the transmembrane 6 superfamily member 2 E167K gene variant
(TM6SF2 EK/KK) have decreased expression of the TM6SF2 gene and increased risk of
NAFLD and NASH. Unlike common 'obese/metabolic'NAFLD, these subjects lack
hypertriglyceridemia and have lower risk of cardiovascular disease. In animals,
phosphatidylcholine (PC) deficiency results in a similar phenotype. PCs surround the core of
VLDL consisting of triglycerides (TGs) and cholesteryl-esters (CEs). We determined the …