Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x.

Abstract

Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport syndrome (XLAS). We targeted truncating variants in exon 21 of the COL4A5 gene and conducted a type IV collagen α3/α4/α5 chain triple helix formation assay, and in vitro and in vivo treatment efficacy evaluation. We show that exon skipping enabled trimer formation, leading to remarkable clinical and pathological improvements including expression of the α5 chain on glomerular and the tubular basement membrane. In addition, the survival period was clearly prolonged in the ASO treated mice group. This data suggests that exon skipping may represent a promising therapeutic approach for treating severe male XLAS cases.

MeSH terms

  • Animals
  • Collagen Type IV / chemistry
  • Collagen Type IV / metabolism*
  • Disease Models, Animal
  • Drug Delivery Systems
  • Exons / physiology*
  • HEK293 Cells
  • Humans
  • Kidney Glomerulus / metabolism
  • Kidney Glomerulus / pathology
  • Male
  • Mice
  • Models, Molecular
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / metabolism*
  • Nephritis, Hereditary / pathology
  • Nephritis, Hereditary / therapy*
  • Renal Insufficiency, Chronic

Substances

  • Col4a5 protein, mouse
  • Collagen Type IV