Complete Transcriptome Profiling of Normal and Age-Related Macular Degeneration Eye Tissues Reveals Dysregulation of Anti-Sense Transcription

Sci Rep. 2018 Feb 14;8(1):3040. doi: 10.1038/s41598-018-21104-7.


Age-related macular degeneration (AMD) predominantly affects the retina and retinal pigment epithelium in the posterior eye. While there are numerous studies investigating the non-coding transcriptome of retina and RPE, few significant differences between AMD and normal tissues have been reported. Strand specific RNA sequencing of both peripheral retina (PR) and RPE-Choroid-Sclera (PRCS), in both AMD and matched normal controls were generated. The transcriptome analysis reveals a highly significant and consistent impact on anti-sense transcription as well as moderate changes in the regulation of non-coding (sense) RNA. Hundreds of genes that do not express anti-sense transcripts in normal PR and PRCS demonstrate significant anti-sense expression in AMD in all patient samples. Several pathways are highly enriched in the upregulated anti-sense transcripts-in particular the EIF2 signaling pathway. These results call for a deeper exploration into anti-sense and noncoding RNA regulation in AMD and their potential as therapeutic targets.

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Antisense Elements (Genetics) / genetics*
  • Antisense Elements (Genetics) / physiology
  • Choroid / pathology
  • Female
  • Gene Expression Profiling / methods
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / physiopathology
  • Male
  • Retina / metabolism
  • Retina / physiopathology
  • Retinal Pigment Epithelium / metabolism
  • Retinal Pigment Epithelium / physiopathology
  • Transcriptome / genetics


  • Antisense Elements (Genetics)