scholarly journals Allele-Specific Inhibition of Rhodopsin With an Antisense Oligonucleotide Slows Photoreceptor Cell Degeneration

2015 ◽  
Vol 56 (11) ◽  
pp. 6362 ◽  
Author(s):  
Susan F. Murray ◽  
Ali Jazayeri ◽  
Michael T. Matthes ◽  
Douglas Yasumura ◽  
Haidong Yang ◽  
...  
Keyword(s):  
Antisense Oligonucleotide ◽  
Photoreceptor Cell ◽  
Specific Inhibition ◽  
Cell Degeneration ◽  
Allele Specific

Apoptosis, retinitis pigmentosa, and degeneration

1994 ◽  
Vol 72 (11-12) ◽  
pp. 489-498 ◽  
Author(s):  
Paul Wong
Keyword(s):  
Cell Death ◽  
Retinitis Pigmentosa ◽  
Retinal Degeneration ◽  
Photoreceptor Cell ◽  
Retinal Cell ◽  
Current Evidence ◽  
Cell Degeneration ◽  
Genetic Lesion ◽  
Common Causes ◽  
Active Cell Death

The mechanism of photoreceptor cell death in different inherited retinal degenerations is not fully understood. Mutations in a number of different genes (such as rhodopsin, the beta subunit of cGMP phosphodiesterase, and peripherin) have been identified as the primary genetic lesion in different forms of human retinitis pigmentosa, one of the most common causes of inherited blindness. In all cases the manifestation of the disorder regardless of the specific primary genetic lesion is similar, resulting in photoreceptor cell degeneration and blindness. A recent hypothesis is that the active photoreceptor cell death, which is characteristic of these genetically distinct disorders, is mediated by a common induction of apoptosis. In the present review, the current evidence for active cell death during retinal cell death in several different rodent models of retinitis pigmentosa and retinal degeneration is examined.Key words: retinal degeneration, apoptosis, retinitis pigmentosa, clusterin, DNA fragmentation.

scholarly journals CYCLIC-NUCLEOTIDE PHOSPHODIESTERASE

1973 ◽  
Vol 57 (1) ◽  
pp. 117-123 ◽  
Author(s):  
Susan Y. Schmidt ◽  
Richard N. Lolley
Keyword(s):  
Cyclic Amp ◽  
Cyclic Nucleotide ◽  
Photoreceptor Cell ◽  
Specific Activity ◽  
Cyclic Nucleotide Phosphodiesterase ◽  
Normal Strain ◽  
Cell Degeneration ◽  
Newborn Mice ◽  
Normal Retina ◽  
C3h Mice

Cyclic nucleotides have been implicated in the differentiation and function of the vertebrate retina. In the normal retina of DBA mice, the specific activity of cyclic-nucleotide phosphodiesterase (PDE), with cyclic-AMP as the substrate (cAMP-PDE), increases eightfold between the 6th and 20th postnatal day. Kinetic analysis of retinae from newborn mice reveals a PDE with a single Michaelis constant (Km) value for cyclic-AMP (low Km-PDE). After the 6th postnatal day, a second PDE with a high Km for cyclic-AMP (high Km-PDE) can be demonstrated. The appearance and increasing activity of the high Km-PDE coincides with the differentiation and growth of photoreceptor outer segments. Additionally, the high Km-PDE is shown by microchemical techniques to be concentrated in the photoreceptor cell layer and the low Km-PDE within the inner layers of the normal retina. In C3H mice afflicted with an inherited degeneration of the photoreceptor layer, the postnatal increase in the specific activity of cAMP-PDE is substantially lower than in the normal retina. The postnatal increase in the specific activity of cAMP-PDE in two regions of the brain of C3H mice is the same as in the normal strain. A deficiency in high Km-PDE activity in the C3H retina is evident on the 7th postnatal day, when the activity of low Km-PDE, photoreceptor morphology, and rhodopsin content of these retina are essentially normal. In the adult C3H retina, the PDE activity with cyclic-GMP and cyclic-UMP as substrates is significantly below that of the normal retina. These data indicate that an alteration in cyclic-AMP metabolism occurs before photoreceptor cell degeneration in the retinae of C3H mice.

scholarly journals siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

2012 ◽  
Vol 132 (6) ◽  
pp. 1741-1743 ◽  
Author(s):  
Valérie Pendaries ◽  
Géraldine Gasc ◽  
Matthias Titeux ◽  
Laure Tonasso ◽  
José Enrique Mejía ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Specific Inhibition ◽  
Mutant Type ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Allele Specific
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