ArticleInvestigative ophthalmology & visual science2015
Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 37 citations in OpenAlex.
- Hematopoietic Stem-Cell Gene Therapy for Cystinosis.The New England journal of medicine · 2026Trial
- Gene modification: Exploring the potential in treating kidney diseases.Pharmacological research · 2026Review
- [Cystinosis: From the gene identification to the first gene therapy clinical trial].Medecine sciences : M/S · 2023Review
- Development of a fibrin-mediated gene delivery system for the treatment of cystinosis via design of experiment.Scientific reports · 2022Article
- Hematopoietic stem and progenitors cells gene editing: Beyond blood disorders.Frontiers in genome editing · 2022Review
- Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia.Frontiers in genome editing · 2022Review
- Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model.Molecular genetics and metabolism · 2021Article
- Review
- Nanotube-like processes facilitate material transfer between photoreceptors.EMBO reports · 2021Article
- Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.Frontiers in molecular biosciences · 2020Review
- Tunneling Nanotubes and the Eye: Intercellular Communication and Implications for Ocular Health and Disease.BioMed research international · 2020Review
- Macrophage polarization impacts tunneling nanotube formation and intercellular organelle trafficking.Scientific reports · 2019Article
- Potential use of stem cells as a therapy for cystinosis.Pediatric nephrology (Berlin, Germany) · 2019Review
- Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.Science translational medicine · 2017Article
- Tunneling Nanotubes are Novel Cellular Structures That Communicate Signals Between Trabecular Meshwork Cells.Investigative ophthalmology & visual science · 2017Article
- Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.BMC nephrology · 2017Article
- The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Nature reviews. Nephrology · 2017Review
- Tunneling Nanotubes and Gap Junctions-Their Role in Long-Range Intercellular Communication during Development, Health, and Disease Conditions.Frontiers in molecular neuroscience · 2017Review
- Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View.International journal of molecular sciences · 2016Review
- Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.Endocrinology · 2016Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeCystinosis is caused by a deficiency in the lysosomal cystine transporter, cystinosin (CTNS gene), resulting in cystine crystal accumulation in tissues. In eyes, crystals accumulate in the cornea causing photophobia and eventually blindness. Hematopoietic stem progenitor cells (HSPCs) rescue the kidney in a mouse model of cystinosis. We investigated the potential for HSPC transplantation to treat corneal defects in cystinosis.
methodsWe isolated HSPCs from transgenic DsRed mice and systemically transplanted irradiated Ctns-/- mice. A year posttransplantation, we investigated the fate and function of HSPCs by in vivo confocal and fluorescence microscopy (IVCM), quantitative RT-PCR (RT-qPCR), mass spectrometry, histology, and by measuring the IOP. To determine the mechanism by which HSPCs may rescue disease cells, we transplanted Ctns-/- mice with Ctns-/- DsRed HSPCs virally transduced to express functional CTNS-eGFP fusion protein.
resultsWe found that a single systemic transplantation of wild-type HSPCs prevented ocular pathology in the Ctns-/- mice. Engraftment-derived HSPCs were detected within the cornea, and also in the sclera, ciliary body, retina, choroid, and lens. Transplantation of HSPC led to substantial decreases in corneal cystine crystals, restoration of normal corneal thickness, and lowered IOP in mice with high levels of donor-derived cell engraftment. Finally, we found that HSPC-derived progeny differentiated into macrophages, which displayed tunneling nanotubes capable of transferring cystinosin-bearing lysosomes to diseased cells.
conclusionsTo our knowledge, this is the first demonstration that HSPCs can rescue hereditary corneal defects, and supports a new potential therapeutic strategy for treating ocular pathologies.
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