Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G.'s Hereditary Retinopathies: Progress in Development of Genetic PDF

By Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang

ISBN-10: 1461444985

ISBN-13: 9781461444985

ISBN-10: 1461444993

ISBN-13: 9781461444992

The hereditary retinopathy, retinitis pigmentosa (RP), which impacts 1 in 3,500 humans around the globe, is the commonest reason for registered visible handicap between these of the operating age in built nations. RP is a hugely variable illness the place sufferers might advance symptomatic visible loss in early adolescence, whereas others may perhaps stay asymptomatic till mid-adulthood. so much situations of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with nearly forty-one genes being implicated in ailment pathology up to now (RetNet). The huge genetic heterogeneity linked to autosomal dominant RP (adRP) is an undisputed predicament to the improvement of genetically dependent therapeutics.

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Extra info for Hereditary Retinopathies: Progress in Development of Genetic and Molecular Therapies

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Yang J, Liu X, Bhalla K, Kim CN, Ibrado AM, Cai J, Peng TI, Jones DP, Wang X (1997) Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked. Science 275(5303):1129–1132 81. Holcik M, Gibson H, Korneluk RG (2001) XIAP: apoptotic brake and promising therapeutic target. Apoptosis 6(4):253–261 82. Kügler S, Straten G, Kreppel F, Isenmann S, Liston P, Bähr M (2000) The X-linked inhibitor of apoptosis (XIAP) prevents cell death in axotomized CNS neurons in vivo. Cell Death Differ 7(9):815–824 83.

Mohand-Said S, Hicks D, Dreyfus H, Sahel JA (2000) Selective transplantation of rods delays cone loss in a retinitis pigmentosa model. Arch Ophthalmol 118(6):807–811 References 29 68. Fintz AC, Audo I, Hicks D, Mohand-Said S, Léveillard T, Sahel J (2003) Partial characterization of retina-derived cone neuroprotection in two culture models of photoreceptor degeneration. Invest Ophthalmol Vis Sci 44(2):818–825 69. Léveillard T, Mohand-Sa S, Lorentz O, Hicks D, Fintz AC, Clérin E, Simonutti M, Forster V, Cavusoglu N, Chalmel F, Dollé P, Poch O, Lambrou G, Sahel JA (2004) Identification and characterization of rod-derived cone viability factor.

In the absence of C1q, the efficiency of apoptotic clearance of dying photoreceptors may be reduced, favoring necrosis and cell lysis and the spilling of cell contents into the retina, which may negatively impact on photoreceptor survival. These results suggest that optimum cone cell survival and hence daytime vision, will be achieved by maintaining, or possibly enhancing levels of C1q within the retina. It is also of interest to note that Galvan and colleagues have recently shown that C1q enhances the expression within the retina of the MERTK which is active in facilitating engulfment of shed outer segment photoreceptor disk membranes into the RPE, providing an additional possible explanation for the protective effects of C1q on photoreceptor survival [91].

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Hereditary Retinopathies: Progress in Development of Genetic and Molecular Therapies by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang


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