TTC39B deficiency stabilizes LXR reducing both atherosclerosis and steatohepatitis

Nature. 2016 Jul 14;535(7611):303-7. doi: 10.1038/nature18628. Epub 2016 Jul 6.

Abstract

Cellular mechanisms that mediate steatohepatitis, an increasingly prevalent condition in the Western world for which no therapies are available, are poorly understood. Despite the fact that its synthetic agonists induce fatty liver, the liver X receptor (LXR) transcription factor remains a target of interest because of its anti-atherogenic, cholesterol removal, and anti-inflammatory activities. Here we show that tetratricopeptide repeat domain protein 39B (Ttc39b, C9orf52) (T39), a high-density lipoprotein gene discovered in human genome-wide association studies, promotes the ubiquitination and degradation of LXR. Chow-fed mice lacking T39 (T39(-/-)) display increased high-density lipoprotein cholesterol levels associated with increased enterocyte ATP-binding cassette transporter A1 (Abca1) expression and increased LXR protein without change in LXR messenger RNA. When challenged with a high fat/high cholesterol/bile salt diet, T39(-/-) mice or mice with hepatocyte-specific T39 deficiency show increased hepatic LXR protein and target gene expression, and unexpectedly protection from steatohepatitis and death. Mice fed a Western-type diet and lacking low-density lipoprotein receptor (Ldlr(-/-)T39(-/-)) show decreased fatty liver, increased high-density lipoprotein, decreased low-density lipoprotein, and reduced atherosclerosis. In addition to increasing hepatic Abcg5/8 expression and limiting dietary cholesterol absorption, T39 deficiency inhibits hepatic sterol regulatory element-binding protein 1 (SREBP-1, ADD1) processing. This is explained by an increase in microsomal phospholipids containing polyunsaturated fatty acids, linked to an LXRα-dependent increase in expression of enzymes mediating phosphatidylcholine biosynthesis and incorporation of polyunsaturated fatty acids into phospholipids. The preservation of endogenous LXR protein activates a beneficial profile of gene expression that promotes cholesterol removal and inhibits lipogenesis. T39 inhibition could be an effective strategy for reducing both steatohepatitis and atherosclerosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1 / metabolism
  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters / metabolism
  • Animals
  • Atherosclerosis / genetics*
  • Atherosclerosis / prevention & control
  • Atherosclerosis / therapy
  • Bile Acids and Salts / metabolism
  • Cholesterol, Dietary / metabolism
  • Cholesterol, HDL / metabolism
  • Diet, High-Fat
  • Fatty Acids, Unsaturated / metabolism
  • Fatty Liver / genetics*
  • Fatty Liver / prevention & control
  • Fatty Liver / therapy
  • Female
  • Gene Expression Regulation
  • Hepatocytes / metabolism
  • Ligands
  • Lipogenesis / genetics
  • Lipoproteins / metabolism
  • Lipoproteins, HDL / deficiency*
  • Lipoproteins, HDL / genetics*
  • Lipoproteins, HDL / metabolism
  • Lipoproteins, LDL / metabolism
  • Liver X Receptors
  • Male
  • Mice
  • Orphan Nuclear Receptors / genetics
  • Orphan Nuclear Receptors / metabolism*
  • Phosphatidylcholines / biosynthesis
  • Phosphatidylcholines / metabolism
  • Protein Stability
  • Proteolysis
  • Receptors, LDL / deficiency
  • Receptors, LDL / genetics
  • Sterol Regulatory Element Binding Protein 1 / metabolism
  • Ubiquitination

Substances

  • ABCA1 protein, mouse
  • ABCG5 protein, mouse
  • ABCG8 protein, mouse
  • ATP Binding Cassette Transporter 1
  • ATP Binding Cassette Transporter, Subfamily G, Member 5
  • ATP Binding Cassette Transporter, Subfamily G, Member 8
  • ATP-Binding Cassette Transporters
  • Bile Acids and Salts
  • Cholesterol, Dietary
  • Cholesterol, HDL
  • Fatty Acids, Unsaturated
  • Ligands
  • Lipoproteins
  • Lipoproteins, HDL
  • Lipoproteins, LDL
  • Liver X Receptors
  • NR1H3 protein, human
  • Nr1h3 protein, mouse
  • Orphan Nuclear Receptors
  • Phosphatidylcholines
  • Receptors, LDL
  • Srebf1 protein, mouse
  • Sterol Regulatory Element Binding Protein 1
  • TTC39B protein, mouse