Targeting Relevant HDACs to Support the Survival of Cone Photoreceptors in Inherited Retinal Diseases: Identification of a Potent Pharmacological Tool with In Vitro and In Vivo Efficacy

J Med Chem. 2024 Sep 12;67(17):14946-14973. doi: 10.1021/acs.jmedchem.4c00477. Epub 2024 Jul 4.

Abstract

Inherited retinal diseases, which include retinitis pigmentosa, are a family of genetic disorders characterized by gradual rod-cone degeneration and vision loss, without effective pharmacological treatments. Experimental approaches aim to delay disease progression, supporting cones' survival, crucial for human vision. Histone deacetylases (HDACs) mediate the activation of epigenetic and nonepigenetic pathways that modulate cone degeneration in RP mouse models. We developed new HDAC inhibitors (5a-p), typified by a tetrahydro-γ-carboline scaffold, characterized by high HDAC6 inhibition potency with balanced physicochemical properties for in vivo studies. Compound 5d (repistat, IC50 HDAC6 = 6.32 nM) increased the levels of acetylated α-tubulin compared to histone H3 in ARPE-19 and 661W cells. 5d promoted vision rescue in the atp6v0e1-/- zebrafish model of photoreceptor dysfunction. A single intravitreal injection of 5d in the rd10 mouse model of RP supported morphological and functional preservation of cone cells and maintenance of the retinal pigment epithelium array.

MeSH terms

  • Animals
  • Cell Survival / drug effects
  • Disease Models, Animal
  • Histone Deacetylase 6 / antagonists & inhibitors
  • Histone Deacetylase 6 / metabolism
  • Histone Deacetylase Inhibitors* / chemistry
  • Histone Deacetylase Inhibitors* / pharmacology
  • Histone Deacetylase Inhibitors* / therapeutic use
  • Histone Deacetylases / metabolism
  • Humans
  • Mice
  • Retinal Cone Photoreceptor Cells* / drug effects
  • Retinal Cone Photoreceptor Cells* / metabolism
  • Retinal Cone Photoreceptor Cells* / pathology
  • Retinitis Pigmentosa / drug therapy
  • Retinitis Pigmentosa / metabolism
  • Retinitis Pigmentosa / pathology
  • Structure-Activity Relationship
  • Zebrafish*

Substances

  • Histone Deacetylase Inhibitors
  • Histone Deacetylases
  • Histone Deacetylase 6