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A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.

Carolin Victoria SchneiderLeonida HehlKate Townsend CreasyCecilia VitaliMara Sophie VellMarijana VujkovicJoe ParkEleonora ScorlettiKatharina S SeelingMiriam D RendelDonna M ConlonHelen HuangInuk ZandvakiliSwati Valmikinull nullKai M SchneiderM Mahmood HussainDaniel J Rader
Published in: Alimentary pharmacology & therapeutics (2023)
MTTP I128T is associated with reduced hepatic steatosis as well as reduced plasma lipids and apoB. This paradoxical profile is not consistent with a simple gain or loss of function in MTP activity and suggests a more complex effect on MTP function. Further investigation of MTTP I128T will provide insight into the structure-function of MTP and potentially new approaches to modulate MTP activity that could both reduce hepatic and circulating lipids.
Keyphrases
  • fatty acid
  • small molecule
  • protein protein