Targeting NAD+ Metabolism as Interventions for Mitochondrial Disease

Sci Rep. 2019 Feb 28;9(1):3073. doi: 10.1038/s41598-019-39419-4.

Abstract

Leigh syndrome is a mitochondrial disease characterized by neurological disorders, metabolic abnormality and premature death. There is no cure for Leigh syndrome; therefore, new therapeutic targets are urgently needed. In Ndufs4-KO mice, a mouse model of Leigh syndrome, we found that Complex I deficiency led to declines in NAD+ levels and NAD+ redox imbalance. We tested the hypothesis that elevation of NAD+ levels would benefit Ndufs4-KO mice. Administration of NAD+ precursor, nicotinamide mononucleotide (NMN) extended lifespan of Ndufs4-KO mice and attenuated lactic acidosis. NMN increased lifespan by normalizing NAD+ redox imbalance and lowering HIF1a accumulation in Ndufs4-KO skeletal muscle without affecting the brain. NMN up-regulated alpha-ketoglutarate (KG) levels in Ndufs4-KO muscle, a metabolite essential for HIF1a degradation. To test whether supplementation of KG can treat Ndufs4-KO mice, a cell-permeable KG, dimethyl ketoglutarate (DMKG) was administered. DMKG extended lifespan of Ndufs4-KO mice and delayed onset of neurological phenotype. This study identified therapeutic mechanisms that can be targeted pharmacologically to treat Leigh syndrome.

Publication types

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

MeSH terms

  • Animals
  • Brain / drug effects
  • Brain / metabolism
  • Disease Models, Animal
  • Electron Transport Complex I / genetics
  • Electron Transport Complex I / metabolism
  • Female
  • Leigh Disease / drug therapy*
  • Leigh Disease / genetics
  • Leigh Disease / metabolism*
  • Longevity / drug effects
  • Male
  • Mice
  • Mice, Knockout
  • Mitochondria / drug effects
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Molecular Targeted Therapy
  • NAD / metabolism*
  • Nicotinamide Mononucleotide / therapeutic use*

Substances

  • Ndufs4 protein, mouse
  • NAD
  • Nicotinamide Mononucleotide
  • Electron Transport Complex I