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A key role for cycl...
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa
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Paquet-Durand, Francois (author)
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Beck, Susanne (author)
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Michalakis, Stylianos (author)
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Goldmann, Tobias (author)
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Huber, Gesine (author)
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Muehlfriedel, Regine (author)
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Trifunovic, Dragana (author)
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Fischer, M. Dominik (author)
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Fahl, Edda (author)
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Duetsch, Gabriele (author)
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Becirovic, Elvir (author)
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Wolfrum, Uwe (author)
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- van Veen, Theo (author)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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Biel, Martin (author)
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Tanimoto, Naoyuki (author)
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Seeliger, Mathias W. (author)
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(creator_code:org_t)
- 2010-12-10
- 2011
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:5, s. 941-947
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Abstract
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- The rd1 natural mutant is one of the first and probably the most commonly studied mouse model for retinitis pigmentosa (RP), a severe and frequently blinding human retinal degeneration. In several decades of research, the link between the increase in photoreceptor cGMP levels and the extremely rapid cell death gave rise to a number of hypotheses. Here, we provide clear evidence that the presence of cyclic nucleotide gated (CNG) channels in the outer segment membrane is the key to rod photoreceptor loss. In Cngb1(-/-) x rd1 double mutants devoid of regular CNG channels, cGMP levels are still pathologically high, but rod photoreceptor viability and outer segment morphology are greatly improved. Importantly, cone photoreceptors, the basis for high-resolution daylight and colour vision, survived and remained functional for extended periods of time. These findings strongly support the hypothesis of deleterious calcium (Ca2+)-influx as the cause of rapid rod cell death and highlight the importance of CNG channels in this process. Furthermore, our findings suggest that targeting rod CNG channels, rather than general Ca2+-channel blockade, is a most promising symptomatic approach to treat otherwise incurable forms of cGMP-related RP.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Paquet-Durand, F ...
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Beck, Susanne
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Michalakis, Styl ...
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Goldmann, Tobias
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Huber, Gesine
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Muehlfriedel, Re ...
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show more...
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Trifunovic, Drag ...
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Fischer, M. Domi ...
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Fahl, Edda
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Duetsch, Gabriel ...
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Becirovic, Elvir
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Wolfrum, Uwe
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van Veen, Theo
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Biel, Martin
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Tanimoto, Naoyuk ...
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Seeliger, Mathia ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Molecular ...
- By the university
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Lund University