In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Mol Psychiatry. 2015 Apr;20(4):459-71. doi: 10.1038/mp.2014.69. Epub 2014 Jul 29.

Abstract

Human mutations in PQBP1, a molecule involved in transcription and splicing, result in a reduced but architecturally normal brain. Examination of a conditional Pqbp1-knockout (cKO) mouse with microcephaly failed to reveal either abnormal centrosomes or mitotic spindles, increased neurogenesis from the neural stem progenitor cell (NSPC) pool or increased cell death in vivo. Instead, we observed an increase in the length of the cell cycle, particularly for the M phase in NSPCs. Corresponding to the developmental expression of Pqbp1, the stem cell pool in vivo was decreased at E10 and remained at a low level during neurogenesis (E15) in Pqbp1-cKO mice. The expression profiles of NSPCs derived from the cKO mouse revealed significant changes in gene groups that control the M phase, including anaphase-promoting complex genes, via aberrant transcription and RNA splicing. Exogenous Apc4, a hub protein in the network of affected genes, recovered the cell cycle, proliferation, and cell phenotypes of NSPCs caused by Pqbp1-cKO. These data reveal a mechanism of brain size control based on the simple reduction of the NSPC pool by cell cycle time elongation. Finally, we demonstrated that in utero gene therapy for Pqbp1-cKO mice by intraperitoneal injection of the PQBP1-AAV vector at E10 successfully rescued microcephaly with preserved cortical structures and improved behavioral abnormalities in Pqbp1-cKO mice, opening a new strategy for treating this intractable developmental disorder.

Publication types

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

MeSH terms

  • Adenoviridae / genetics
  • Animals
  • Apc4 Subunit, Anaphase-Promoting Complex-Cyclosome / metabolism
  • Apoptosis / genetics
  • Brain / pathology
  • Carrier Proteins / genetics
  • Cell Adhesion Molecules / metabolism
  • Cell Cycle
  • Cell Proliferation
  • DNA-Binding Proteins
  • Disease Models, Animal
  • Embryo, Mammalian
  • Female
  • Genetic Therapy*
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Microcephaly / therapy*
  • Nestin / genetics
  • Nestin / metabolism
  • Neural Stem Cells / physiology*
  • Neurogenesis
  • Nuclear Proteins / deficiency*
  • Nuclear Proteins / genetics
  • Synapsins / genetics
  • Synapsins / metabolism

Substances

  • ANAPC4 protein, human
  • Apc4 Subunit, Anaphase-Promoting Complex-Cyclosome
  • Carrier Proteins
  • Cell Adhesion Molecules
  • DNA-Binding Proteins
  • Nestin
  • Nuclear Proteins
  • Pqbp1 protein, mouse
  • Synapsins
  • cell aggregation factors