Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

Nat Commun. 2019 Sep 6;10(1):4045. doi: 10.1038/s41467-019-11962-8.

Abstract

Lysosomal enzyme deficiencies comprise a large group of genetic disorders that generally lack effective treatments. A potential treatment approach is to engineer the patient's own hematopoietic system to express high levels of the deficient enzyme, thereby correcting the biochemical defect and halting disease progression. Here, we present an efficient ex vivo genome editing approach using CRISPR-Cas9 that targets the lysosomal enzyme iduronidase to the CCR5 safe harbor locus in human CD34+ hematopoietic stem and progenitor cells. The modified cells secrete supra-endogenous enzyme levels, maintain long-term repopulation and multi-lineage differentiation potential, and can improve biochemical and phenotypic abnormalities in an immunocompromised mouse model of Mucopolysaccharidosis type I. These studies provide support for the development of genome-edited CD34+ hematopoietic stem and progenitor cells as a potential treatment for Mucopolysaccharidosis type I. The safe harbor approach constitutes a flexible platform for the expression of lysosomal enzymes making it applicable to other lysosomal storage disorders.

Publication types

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

MeSH terms

  • Animals
  • Antigens, CD34 / genetics
  • Antigens, CD34 / metabolism
  • CRISPR-Cas Systems
  • Gene Editing / methods*
  • Genetic Therapy / methods
  • Genome, Human*
  • Hematopoietic Stem Cell Transplantation / methods*
  • Hematopoietic Stem Cells / metabolism*
  • Humans
  • Iduronidase / genetics
  • Iduronidase / metabolism*
  • Mice
  • Mice, Inbred NOD
  • Mice, Knockout
  • Mice, SCID
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / pathology
  • Mucopolysaccharidosis I / therapy*
  • NIH 3T3 Cells
  • Phenotype
  • Receptors, CCR5 / genetics
  • Receptors, CCR5 / metabolism
  • Transplantation, Heterologous

Substances

  • Antigens, CD34
  • CCR5 protein, human
  • Receptors, CCR5
  • Iduronidase