Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex

Genes Dev. 2006 Nov 1;20(21):2996-3009. doi: 10.1101/gad.1483906. Epub 2006 Oct 18.

Abstract

Leigh syndrome French Canadian variant (LSFC) is an autosomal recessive neurodegenerative disorder due to mutation in the LRP130 (leucine-rich protein 130 kDa) gene. Unlike classic Leigh syndrome, the French Canadian variant spares the heart, skeletal muscle, and kidneys, but severely affects the liver. The precise role of LRP130 in cytochrome c oxidase deficiency and hepatic lactic acidosis that accompanies this disorder is unknown. We show here that LRP130 is a component of the PGC-1alpha (peroxisome proliferator-activated receptor coactivator 1-alpha) transcriptional coactivator holocomplex and regulates expression of PEPCK (phosphoenolpyruvate carboxykinase), G6P (glucose-6-phosphatase), and certain mitochondrial genes through PGC-1alpha. Reduction of LRP130 in fasted mice via adenoviral RNA interference (RNAi) vector blocks the induction of PEPCK and G6P, and blunts hepatic glucose output. LRP130 is also necessary for PGC-1alpha-dependent transcription of several mitochondrial genes in vivo. These data link LRP130 and PGC-1alpha to defective hepatic energy homeostasis in LSFC, and reveal a novel regulatory mechanism of glucose homeostasis.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Binding Sites
  • Chromatin Immunoprecipitation
  • Energy Metabolism / genetics
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors / metabolism
  • Gene Expression Regulation*
  • Genes, Mitochondrial / genetics
  • Gluconeogenesis / genetics*
  • Glucose / metabolism*
  • Glucose-6-Phosphatase / genetics
  • Homeostasis / genetics
  • Leigh Disease / genetics
  • Leigh Disease / metabolism*
  • Liver / metabolism
  • Mice
  • Neoplasm Proteins / metabolism*
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Phosphoenolpyruvate Carboxykinase (ATP) / genetics
  • Trans-Activators / metabolism*
  • Transcription Factors

Substances

  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • Foxo1 protein, mouse
  • Lrpprc protein, mouse
  • Neoplasm Proteins
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Ppargc1a protein, mouse
  • Trans-Activators
  • Transcription Factors
  • Glucose-6-Phosphatase
  • Phosphoenolpyruvate Carboxykinase (ATP)
  • Glucose