Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism

Cold Spring Harb Perspect Med. 2024 May 2;14(5):a041289. doi: 10.1101/cshperspect.a041289.

Abstract

Retinitis pigmentosa is a blinding disease wherein rod photoreceptors are affected first, due to the expression of a disease gene, leading to the loss of dim light vision. In many cases, cones do not express the disease gene, yet they are also affected and eventually die, typically after most of the rods in their neighborhood have died. The cause of secondary cone death is unclear. Photoreceptors are one of the most energy-demanding cell types in the body and consume a high amount of glucose. At an early stage of degeneration, the cones appear to have a shortage of glucose to fuel their metabolism. This review focuses on gene therapy approaches that address this potential metabolic shortcoming.

Publication types

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

MeSH terms

  • Animals
  • Genetic Therapy*
  • Glucose* / metabolism
  • Humans
  • Retinal Cone Photoreceptor Cells / metabolism
  • Retinal Rod Photoreceptor Cells / metabolism
  • Retinitis Pigmentosa* / genetics
  • Retinitis Pigmentosa* / metabolism
  • Retinitis Pigmentosa* / therapy

Substances

  • Glucose