TY - JOUR
T1 - Therapeutic strategy for handling inherited retinal degenerations in a gene-independent manner using rod-derived cone viability factors
AU - Léveillard, Thierry
AU - Fridlich, Ram
AU - Clérin, Emmanuelle
AU - Aït-Ali, Najate
AU - Millet-Puel, Géraldine
AU - Jaillard, Céline
AU - Yang, Ying
AU - Zack, Donald
AU - Van-Dorsselaer, Alain
AU - Sahel, José Alain
PY - 2014/3
Y1 - 2014/3
N2 - The most common hereditary retinal degeneration, retinitis pigmentosa (RP), leads to blindness by degeneration of cone photoreceptors. Meanwhile, genetic studies have shown that a significant proportion of RP genes is expressed only by rods, which raises the question of the mechanism leading to the degeneration of cones. Following the concept of sustainability factor cones, rods secrete survival factors that are necessary to maintain the cones, named Rod-derived Cone Viability Factors (RdCVFs). In patients suffering from RP, loss of rods results in the loss of RdCVFs expression and followed by cone degeneration. We have identified the bifunctional genes nucleoredoxin-like 1 and 2 that encode for, by differential splicing, a thioredoxin enzyme and a cone survival factor, respectively RdCVF and RdCVF2. The administration of these survival factors would maintain cones and central vision in most patients suffering from RP.
AB - The most common hereditary retinal degeneration, retinitis pigmentosa (RP), leads to blindness by degeneration of cone photoreceptors. Meanwhile, genetic studies have shown that a significant proportion of RP genes is expressed only by rods, which raises the question of the mechanism leading to the degeneration of cones. Following the concept of sustainability factor cones, rods secrete survival factors that are necessary to maintain the cones, named Rod-derived Cone Viability Factors (RdCVFs). In patients suffering from RP, loss of rods results in the loss of RdCVFs expression and followed by cone degeneration. We have identified the bifunctional genes nucleoredoxin-like 1 and 2 that encode for, by differential splicing, a thioredoxin enzyme and a cone survival factor, respectively RdCVF and RdCVF2. The administration of these survival factors would maintain cones and central vision in most patients suffering from RP.
KW - Cone photoreceptors
KW - Nucleoredoxin-like
KW - Redox signalling
KW - TAU
KW - Thioredoxin
KW - Vision
UR - http://www.scopus.com/inward/record.url?scp=84897990379&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84897990379&partnerID=8YFLogxK
U2 - 10.1016/j.crvi.2013.12.002
DO - 10.1016/j.crvi.2013.12.002
M3 - Short survey
C2 - 24702847
AN - SCOPUS:84897990379
SN - 1631-0691
VL - 337
SP - 207
EP - 213
JO - Comptes Rendus - Biologies
JF - Comptes Rendus - Biologies
IS - 3
ER -