Leveraging Human Genetics to Identify Potential New Treatments for Fatty Liver Disease

Cell Metab. 2020 Jan 7;31(1):35-45. doi: 10.1016/j.cmet.2019.12.002.

Abstract

Fatty liver disease (FLD), including its more severe pathologies, namely steatohepatitis, hepatocarcinoma, and cirrhosis, is the most common cause of chronic liver disease worldwide and is projected to become the leading cause of hepatocellular carcinoma and end-stage liver disease. FLD is heterogeneous with multiple etiologies and diverse histological phenotypes, so therapies will ultimately need to be individualized for relevant targets. Inherited factors contribute to FLD, and most of the genetic variation influencing liver disease development and progression is derived from genes involved in lipid biology, including PNPLA3, TM6SF2, GCKR, MBOAT7, and HSD17B13. From this point of view, we focus in this perspective on how human molecular genetics of FLD have highlighted defects in hepatic lipid handling as a major common mechanism of its pathology and how this insight could be leveraged to treat and prevent its more serious complications.

Publication types

  • Review

MeSH terms

  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / metabolism
  • Carcinoma, Hepatocellular / pathology
  • Disease Progression
  • Drug Discovery / methods*
  • Genetics, Medical / methods
  • Humans
  • Lipid Metabolism / genetics*
  • Lipid Metabolism / physiology
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / metabolism
  • Liver Cirrhosis / pathology
  • Liver Neoplasms / genetics
  • Liver Neoplasms / metabolism
  • Liver Neoplasms / pathology
  • Metabolome / genetics*
  • Metabolome / physiology
  • Metabolomics
  • Non-alcoholic Fatty Liver Disease / drug therapy
  • Non-alcoholic Fatty Liver Disease / etiology
  • Non-alcoholic Fatty Liver Disease / genetics*
  • Non-alcoholic Fatty Liver Disease / metabolism*
  • Polymorphism, Single Nucleotide
  • Precision Medicine / methods
  • Proteome / genetics
  • Proteome / metabolism*
  • Risk Factors

Substances

  • Proteome