Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease

Experimental Eye Research

Volumn 146, Issue , 2016, Pages 276-282

  Whiting, Rebecca E H ^a   Jensen, Cheryl A ^a   Pearce, Jacqueline W ^b   Gillespie, Lauren E ^a   Bristow, Daniel E ^c   Katz, Martin L ^a  

^a University of Missouri   (United States)

^b UNIVERSITY OF MISSOURI   (United States)

^c UNIVERSITY OF MISSOURI   (United States)

Author keywords

Gene therapy; Neuronal ceroid lipofuscinosis; Optic nerve; Retinal degeneration

Indexed keywords

TRIPEPTIDYL PEPTIDASE I; AMINOPEPTIDASE; DIPEPTIDYL PEPTIDASE; SERINE PROTEINASE; TRIPEPTIDYL-PEPTIDASE 1;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CEREBROSPINAL FLUID; CONTROLLED STUDY; DACHSHUND (DOG); DISEASE COURSE; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; GENE THERAPY; MALE; NEUROLOGIC DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; OPTIC NERVE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA GANGLION CELL; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; ANALYSIS OF VARIANCE; ANIMAL; AXON; CYTOLOGY; DISEASE MODEL; DOG; GENE VECTOR; GENETICS; INTRACEREBROVENTRICULAR DRUG ADMINISTRATION; NEURONAL CEROID-LIPOFUSCINOSES; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; PUPIL REFLEX; RETINAL DEGENERATION;

AMINOPEPTIDASES; ANALYSIS OF VARIANCE; ANIMALS; AXONS; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; DOGS; ELECTRORETINOGRAPHY; GENETIC THERAPY; GENETIC VECTORS; INFUSIONS, INTRAVENTRICULAR; NEURONAL CEROID-LIPOFUSCINOSES; OPTIC NERVE; REFLEX, PUPILLARY; RETINAL DEGENERATION; RETINAL GANGLION CELLS; SERINE PROTEASES;

EID: 84962891369     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2016.03.023     Document Type: Article

References (23)

1. Adler A.J. Selective presence of acid hydrolases in the interphotoreceptor matrix. Exp. Eye Res. 1989, 49:1067-1077.
2. Adler A.J., Evans C.D. Proteins of the bovine interphotoreceptor matrix: retinoid binding and other functions. Prog. Clin. Biol. Res. 1985, 190:65-88.
3. Adler A.J., Martin K.J. Lysosomal enzymes in the interphotoreceptor matrix: acid protease. Curr. Eye Res. 1983, 2:359-366.
4. Awano T., Katz M.L., O'Brien D.P., Sohar I., Lobel P., Coates J.R., Khan S., Johnson G.C., Giger U., Johnson G.S. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol. Genet. Metabolism 2006, 89:254-260.
5. Cotman S.L., Karaa A., Staropoli J.F., Sims K.B. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr. Neurology Neurosci. Rep. 2013, 13:366.
6. Ekesten B., Komaromy A.M., Ofri R., Petersen-Jones S.M., Narfstrom K. Guidelines for clinical electroretinography in the dog: 2012 update. Doc. Ophthalmol. 2013, 127:79-87.
7. Gilliam D., Kolicheski A., Johnson G.S., Mhlanga-Mutangadura T., Taylor J.F., Schnabel R.D., Katz M. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol. Genet. Metabolism 2015, 115:101-109.
8. Katz M.L., Coates J.R., Cooper J.J., O'Brien D.P., Jeong M., Narfstrom K. Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. Investigative Ophthalmol. Vis. Sci. 2008, 49:2686-2695.
9. Katz M.L., Coates J.R., Sibigtroth C.M., Taylor J.D., Carpentier M., Young W.M., Wininger F.A., Kennedy D., Vuillemenot B.R., O'Neill C.A. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). J. Neurosci. Res. 2014, 92:1591-1598.
10. Katz M.L., Narfstrom K., Johnson G.S., O'Brien D.P. Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis. Am. J. Veterinary Res. 2005, 66:67-76.
11. Katz M.L., Tecedor L., Chen Y., Williamson B.G., Lysenko E., Wininger F.A., Young W.M., Johnson G.C., Whiting R.E.H., Coates J.R., Davidson B.L. AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease. Sci. Transl. Med. 2015, 7:313ra180.
12. Meyer C.H., Krohne T.U., Charbel Issa P., Liu Z., Holz F.G. Routes for drug delivery to the eye and retina: intravitreal injections. Dev. Ophthalmol. 2016, 55:63-70.
13. Mole S.E., Cotman S.L. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim. Biophys. Acta 2015, 1825:2237-2241.
14. Mole S.E., Williams R.E., Goebel H.H. The Neuronal Ceroid Lipofuscinoses (Batten Disease) 2011, Oxford University Press, Oxford. 2 ed.
15. Morgan B.R., Coates J.R., Johnson G.C., Bujnak A.C., Katz M.L. Characterization of intercostal muscle pathology in canine degenerative myelopathy: a disease model for amyotrophic lateral sclerosis. J. Neurosci. Res. 2013, 91:1639-1650.
16. Morgan B.R., Coates J.R., Johnson G.C., Shelton G.D., Katz M.L. Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis. J. Neurosci. Res. 2014, 92:531-541.
17. Parenti G., Andria G., Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu. Rev. Med. 2015, 66:471-486.
18. Vuillemenot B.R., Kennedy D., Cooper J.D., Wong A.M., Sri S., Doeleman T., Katz M.L., Coates J.R., Johnson G.C., Reed R.P., Adams E.L., Butt M.T., Musson D.G., Henshaw J., Keve S., Cahayag R., Tsuruda L.S., O'Neill C.A. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis. Mol. Genet. Metabolism 2015, 114:281-293.
19. Warrier V., Vieira M., Mole S.E. Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. Biochimica Biophysica Acta 2013, 1832:1827-1830.
20. Whiting R.E., Narfstrom K., Yao G., Pearce J.W., Coates J.R., Castaner L.J., Jensen C.A., Dougherty B.N., Vuillemenot B.R., Kennedy D., O'Neill C.A., Katz M.L. Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp. Eye Res. 2014, 125:164-172.
21. Whiting R.E., Narfstrom K., Yao G., Pearce J.W., Coates J.R., Castaner L.J., Katz M.L. Pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis. Exp. Eye Res. 2013, 116:402-410.
22. Whiting R.E., Pearce J.W., Castaner L.J., Jensen C.A., Katz R.J., Gilliam D.H., Katz M.L. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp. Eye Res. 2015, 134:123-132.
23. Whiting R.E., Yao G., Narfstrom K., Pearce J.W., Coates J.R., Dodam J.R., Castaner L.J., Katz M.L. Quantitative assessment of the canine pupillary light reflex. Investigative Ophthalmol. Vis. Sci. 2013, 54:5432-5440.