title: Identification and characterization of rod-derived cone viability factor.
abstract: 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.
authors.affiliation: 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.
authors.forename: Thierry
authors.initials: T
authors.lastname: Léveillard
authors.forename: Saddek
authors.initials: S
authors.lastname: Mohand-Saïd
authors.forename: Olivier
authors.initials: O
authors.lastname: Lorentz
authors.forename: David
authors.initials: D
authors.lastname: Hicks
authors.forename: Anne-Claire
authors.initials: AC
authors.lastname: Fintz
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Clérin
authors.forename: Manuel
authors.initials: M
authors.lastname: Simonutti
authors.forename: Valérie
authors.initials: V
authors.lastname: Forster
authors.forename: Nükhet
authors.initials: N
authors.lastname: Cavusoglu
authors.forename: Frédéric
authors.initials: F
authors.lastname: Chalmel
authors.forename: Pascal
authors.initials: P
authors.lastname: Dollé
authors.forename: Olivier
authors.initials: O
authors.lastname: Poch
authors.forename: George
authors.initials: G
authors.lastname: Lambrou
authors.forename: José-Alain
authors.initials: JA
authors.lastname: Sahel
mesh_terms: 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
chemical_list: C488098:NXNL1 protein, human; D012333:RNA, Messenger; D013879:Thioredoxins