Identification and characterization of rod-derived cone viability factor.
Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are essential for day and high-acuity vision. Their loss is indirect, as most genes associated with retinitis pigmentosa are not expressed by these cells. We previously showed that factors secreted from rods are essential for cone viability. Here we identified one such trophic factor by expression cloning and named it rod-derived cone viability factor (RdCVF). RdCVF is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa.
Léveillard
Thierry
T
Laboratoire de Physiopathologie Cellulaire et Moléculaire et de la Rétine, Inserm U592, Université Pierre et Marie Curie, Hôpital St-Antoine, 184 rue du Faubourg St-Antoine, 75571, Paris cedex 12, France.
Mohand-Saïd
Saddek
S
Lorentz
Olivier
O
Hicks
David
D
Fintz
Anne-Claire
AC
Clérin
Emmanuelle
E
Simonutti
Manuel
M
Forster
Valérie
V
Cavusoglu
Nükhet
N
Chalmel
Frédéric
F
Dollé
Pascal
P
Poch
Olivier
O
Lambrou
George
G
Sahel
José-Alain
JA
D000595:Amino Acid Sequence; D015153:Blotting, Western; D003001:Cloning, Molecular; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000378:metabolism*; D013879:Thioredoxins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism
C488098:NXNL1 protein, human; D012333:RNA, Messenger; D013879:Thioredoxins