Biology and therapy of inherited retinal degenerative disease: insights from mouse models

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to unc...

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Vydané v:Disease models & mechanisms Ročník 8; číslo 2; s. 109 - 129
Hlavní autori: Veleri, Shobi, Lazar, Csilla H., Chang, Bo, Sieving, Paul A., Banin, Eyal, Swaroop, Anand
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: England The Company of Biologists Ltd 01.02.2015
The Company of Biologists Limited
The Company of Biologists
Predmet:
Animals
Disease
Disease Models, Animal
Genes
Genetic Diseases, Inborn - therapy
Humans
Light Signal Transduction
Macular degeneration
Mice
Mouse mutants
Mutation
Photoreceptor
Photoreceptor Cells, Vertebrate - pathology
Photoreceptors
Proteins
Retina
Retina - pathology
Retina - physiopathology
Retinal Degeneration - therapy
Retinal development
Retinal disease
Review
Retinal development
Mouse mutants
Retinal disease
Photoreceptor
ISSN:1754-8403, 1754-8411, 1754-8411
On-line prístup:Získať plný text
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Abstract Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.
AbstractList Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been made over the last two decades in discovering genes and genetic defects that lead to retinal diseases. The primary focus has now shifted to uncovering disease mechanisms and designing treatment strategies, especially inspired by the successful application of gene therapy in some forms of congenital blindness in humans. Both spontaneous and laboratory-generated mouse mutants have been valuable for providing fundamental insights into normal retinal development and for deciphering disease pathology. Here, we provide a review of mouse models of human retinal degeneration, with a primary focus on diseases affecting photoreceptor function. We also describe models associated with retinal pigment epithelium dysfunction or synaptic abnormalities. Furthermore, we highlight the crucial role of mouse models in elucidating retinal and photoreceptor biology in health and disease, and in the assessment of novel therapeutic modalities, including gene- and stem-cell-based therapies, for retinal degenerative diseases.
Author Chang, Bo
Veleri, Shobi
Banin, Eyal
Lazar, Csilla H.
Sieving, Paul A.
Swaroop, Anand
AuthorAffiliation 5 Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
4 National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
2 Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, 400271, Romania
1 Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
3 The Jackson Laboratory, Bar Harbor, ME 04609, USA
AuthorAffiliation_xml – name: 4 National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
– name: 3 The Jackson Laboratory, Bar Harbor, ME 04609, USA
– name: 2 Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, 400271, Romania
– name: 5 Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
– name: 1 Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
Author_xml – sequence: 1
  givenname: Shobi
  surname: Veleri
  fullname: Veleri, Shobi
  organization: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
– sequence: 2
  givenname: Csilla H.
  surname: Lazar
  fullname: Lazar, Csilla H.
  organization: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Molecular Biology Center, Interdisciplinary Research Institute on Bio-Nano Sciences, Babes-Bolyai-University, Cluj-Napoca, 400271, Romania
– sequence: 3
  givenname: Bo
  surname: Chang
  fullname: Chang, Bo
  organization: The Jackson Laboratory, Bar Harbor, ME 04609, USA
– sequence: 4
  givenname: Paul A.
  surname: Sieving
  fullname: Sieving, Paul A.
  organization: National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
– sequence: 5
  givenname: Eyal
  surname: Banin
  fullname: Banin, Eyal
  organization: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
– sequence: 6
  givenname: Anand
  surname: Swaroop
  fullname: Swaroop, Anand
  organization: Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
BackLink https://www.ncbi.nlm.nih.gov/pubmed/25650393$$D View this record in MEDLINE/PubMed
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Issue 2
Keywords Retinal development
Mouse mutants
Retinal disease
Photoreceptor
Language English
License 2015. Published by The Company of Biologists Ltd.
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Snippet Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a major cause of incurable vision loss. Tremendous progress has been...
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StartPage 109
SubjectTerms Animals
Disease
Disease Models, Animal
Genes
Genetic Diseases, Inborn - therapy
Humans
Light Signal Transduction
Macular degeneration
Mice
Mouse mutants
Mutation
Photoreceptor
Photoreceptor Cells, Vertebrate - pathology
Photoreceptors
Proteins
Retina
Retina - pathology
Retina - physiopathology
Retinal Degeneration - therapy
Retinal development
Retinal disease
Review
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