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Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice

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Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. / Kruszewski, Katharina; Lüllmann-Rauch, Renate; Dierks, Thomas; Bartsch, Udo; Damme, Markus.

In: INVEST OPHTH VIS SCI, Vol. 57, No. 3, 03.2016, p. 1120-31.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kruszewski, K, Lüllmann-Rauch, R, Dierks, T, Bartsch, U & Damme, M 2016, 'Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice', INVEST OPHTH VIS SCI, vol. 57, no. 3, pp. 1120-31. https://doi.org/10.1167/iovs.15-17645

APA

Kruszewski, K., Lüllmann-Rauch, R., Dierks, T., Bartsch, U., & Damme, M. (2016). Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. INVEST OPHTH VIS SCI, 57(3), 1120-31. https://doi.org/10.1167/iovs.15-17645

Vancouver

Kruszewski K, Lüllmann-Rauch R, Dierks T, Bartsch U, Damme M. Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice. INVEST OPHTH VIS SCI. 2016 Mar;57(3):1120-31. https://doi.org/10.1167/iovs.15-17645

Bibtex

@article{0da71f2c4f4d452d9dafcac1df7ff686,
title = "Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice",
abstract = "PURPOSE: Retinal degeneration is a common feature of several lysosomal storage disorders, including the mucopolysaccharidoses, a group of metabolic disorders that is characterized by widespread accumulation of glycosaminoglycans due to lysosomal enzyme dysfunction. We used a new mouse model of mucopolysaccharidosis IIIE to study the effect of Arylsulfatase G (ARSG) deficiency on retina integrity.METHODS: The retina of Arsg knockout mice aged 1 to 24 months was studied by immunohistochemistry and Western blot analysis. Electron microscopic analyses were performed on retinas from 15- and 22-month-old animals. Photoreceptor and microglia cell numbers and retina thickness were determined to quantitatively characterize retinal degeneration in ARSG-deficient mice.RESULTS: Arsg knockout mice showed a progressive degeneration of photoreceptor cells starting between 1 and 6 months of age, resulting in the loss of more than 50% of photoreceptor cells in 24-month-old mice. Photoreceptor loss was accompanied by reactive astrogliosis, reactive microgliosis that was evident in the outer but not inner retina, and elevated expression levels of some lysosomal proteins. Electron microscopic analyses of retinas revealed no evidence for the presence of storage vacuoles. Of note, expression of ARSG protein in wild-type mice was detectable only in the RPE which, however, appeared morphologically unaffected in knockout mice at the electron microscopic level.CONCLUSIONS: To our knowledge, this is the first study demonstrating that ARSG deficiency results in progressive photoreceptor degeneration and dysregulation of various lysosomal proteins.",
keywords = "Animals, Arylsulfatases, Blotting, Western, Disease Models, Animal, Immunohistochemistry, Mice, Mice, Inbred C57BL, Mice, Knockout, Microglia, Mucopolysaccharidosis III, Photoreceptor Cells, Proteins, Retinal Degeneration, beta-N-Acetylhexosaminidases, Journal Article, Research Support, Non-U.S. Gov't",
author = "Katharina Kruszewski and Renate L{\"u}llmann-Rauch and Thomas Dierks and Udo Bartsch and Markus Damme",
year = "2016",
month = mar,
doi = "10.1167/iovs.15-17645",
language = "English",
volume = "57",
pages = "1120--31",
journal = "INVEST OPHTH VIS SCI",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "3",

}

RIS

TY - JOUR

T1 - Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice

AU - Kruszewski, Katharina

AU - Lüllmann-Rauch, Renate

AU - Dierks, Thomas

AU - Bartsch, Udo

AU - Damme, Markus

PY - 2016/3

Y1 - 2016/3

N2 - PURPOSE: Retinal degeneration is a common feature of several lysosomal storage disorders, including the mucopolysaccharidoses, a group of metabolic disorders that is characterized by widespread accumulation of glycosaminoglycans due to lysosomal enzyme dysfunction. We used a new mouse model of mucopolysaccharidosis IIIE to study the effect of Arylsulfatase G (ARSG) deficiency on retina integrity.METHODS: The retina of Arsg knockout mice aged 1 to 24 months was studied by immunohistochemistry and Western blot analysis. Electron microscopic analyses were performed on retinas from 15- and 22-month-old animals. Photoreceptor and microglia cell numbers and retina thickness were determined to quantitatively characterize retinal degeneration in ARSG-deficient mice.RESULTS: Arsg knockout mice showed a progressive degeneration of photoreceptor cells starting between 1 and 6 months of age, resulting in the loss of more than 50% of photoreceptor cells in 24-month-old mice. Photoreceptor loss was accompanied by reactive astrogliosis, reactive microgliosis that was evident in the outer but not inner retina, and elevated expression levels of some lysosomal proteins. Electron microscopic analyses of retinas revealed no evidence for the presence of storage vacuoles. Of note, expression of ARSG protein in wild-type mice was detectable only in the RPE which, however, appeared morphologically unaffected in knockout mice at the electron microscopic level.CONCLUSIONS: To our knowledge, this is the first study demonstrating that ARSG deficiency results in progressive photoreceptor degeneration and dysregulation of various lysosomal proteins.

AB - PURPOSE: Retinal degeneration is a common feature of several lysosomal storage disorders, including the mucopolysaccharidoses, a group of metabolic disorders that is characterized by widespread accumulation of glycosaminoglycans due to lysosomal enzyme dysfunction. We used a new mouse model of mucopolysaccharidosis IIIE to study the effect of Arylsulfatase G (ARSG) deficiency on retina integrity.METHODS: The retina of Arsg knockout mice aged 1 to 24 months was studied by immunohistochemistry and Western blot analysis. Electron microscopic analyses were performed on retinas from 15- and 22-month-old animals. Photoreceptor and microglia cell numbers and retina thickness were determined to quantitatively characterize retinal degeneration in ARSG-deficient mice.RESULTS: Arsg knockout mice showed a progressive degeneration of photoreceptor cells starting between 1 and 6 months of age, resulting in the loss of more than 50% of photoreceptor cells in 24-month-old mice. Photoreceptor loss was accompanied by reactive astrogliosis, reactive microgliosis that was evident in the outer but not inner retina, and elevated expression levels of some lysosomal proteins. Electron microscopic analyses of retinas revealed no evidence for the presence of storage vacuoles. Of note, expression of ARSG protein in wild-type mice was detectable only in the RPE which, however, appeared morphologically unaffected in knockout mice at the electron microscopic level.CONCLUSIONS: To our knowledge, this is the first study demonstrating that ARSG deficiency results in progressive photoreceptor degeneration and dysregulation of various lysosomal proteins.

KW - Animals

KW - Arylsulfatases

KW - Blotting, Western

KW - Disease Models, Animal

KW - Immunohistochemistry

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Knockout

KW - Microglia

KW - Mucopolysaccharidosis III

KW - Photoreceptor Cells

KW - Proteins

KW - Retinal Degeneration

KW - beta-N-Acetylhexosaminidases

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1167/iovs.15-17645

DO - 10.1167/iovs.15-17645

M3 - SCORING: Journal article

C2 - 26975023

VL - 57

SP - 1120

EP - 1131

JO - INVEST OPHTH VIS SCI

JF - INVEST OPHTH VIS SCI

SN - 0146-0404

IS - 3

ER -