PKM2 ablation enhanced retinal function and survival in a preclinical model of retinitis pigmentosa

Mamm Genome. 2020 Apr;31(3-4):77-85. doi: 10.1007/s00335-020-09837-1. Epub 2020 Apr 27.

Abstract

Retinitis pigmentosa (RP) is a neurodegenerative disorder that causes irreversible vision loss in over 1.5 million individuals world-wide. The genetic heterogeneity of RP necessitates a broad therapy that is able to provide treatment in a gene- and mutation- non-specific manner. In this study, we identify the therapeutic benefits of metabolic reprogramming by targeting pyruvate kinase M2 (PKM2) in a Pde6β preclinical model of RP. The genetic contributions of PKM2 inhibition in retinal degeneration were evaluated through histology and electroretinogram (ERG) followed by a statistical analysis using a linear regression model. Notably, PKM2 ablation resulted in thicker retinal layers in Pde6β-mutated mice as compared to the controls, suggesting greater photoreceptor survival. Consistent with these anatomical findings, ERG analyses revealed that the maximum b-wave is on average greater in Pkm2 knockout mice than in mice with intact Pkm2, indicating enhanced photoreceptor function. These rescue phenotypes from Pkm2 ablation in a preclinical model of RP indicate that a metabolome reprogramming may be useful in treating RP.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Mice
  • Mice, Knockout
  • Mutation / genetics
  • Pyruvate Kinase / genetics*
  • Retina / pathology*
  • Retinal Degeneration
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism*

Substances

  • Pkm protein, mouse
  • Pyruvate Kinase