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Brain endothelial specific gene therapy improves experimental Sandhoff disease.

Godwin Dogbevia1,2, Hanna Grasshoff1, Alaa Othman1

  • 1Institute for Experimental and Clinical Pharmacology and Toxicology, University of Lübeck, Lübeck, Germany.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism
|July 31, 2019
PubMed
Summary

Gene therapy targeting non-neuronal cells, specifically endothelial cells, effectively reduced symptoms and prolonged survival in a mouse model of Sandhoff disease by restoring beta-hexosaminidase enzyme levels.

Keywords:
AAVSandhoff diseaseendothelial cellsgene therapylysosomal storage disorder

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Tay-Sachs and Sandhoff diseases involve GM2 ganglioside accumulation due to beta-hexosaminidase deficiency.
  • Neurodegeneration is triggered despite the enzyme deficiency primarily affecting non-neuronal cells.

Purpose of the Study:

  • To investigate if endothelial expression of human HEXA and HEXB genes can alleviate Sandhoff disease symptoms in Hexb-/- mice.
  • To determine the efficacy of targeting non-neuronal cells for gene therapy in GM2 gangliosidoses.

Main Methods:

  • Utilized brain endothelial-selective AAV vectors (AAV-BR1-CAG-HEXA and AAV-BR1-CAG-HEXB) for gene delivery.
  • Administered gene vectors intravenously to adult and neonatal Hexb-/- mice.
  • Assessed survival, neurological function, GM2 and GA2 glycolipid levels, and astrocytic activation.

Main Results:

  • Intravenous gene therapy prolonged survival in treated mice.
  • Neurological function improved, and accumulation of GM2 and GA2 was reduced.
  • Astrocytic activation decreased, indicating a reduction in neuroinflammation.

Conclusions:

  • Endothelial cells are a viable target for intravenous gene therapy in GM2 gangliosidoses.
  • This approach can restore physiological beta-hexosaminidase levels and ameliorate disease pathology.
  • Gene therapy targeting non-neuronal cells shows promise for treating lysosomal storage disorders.