Léveillard Thierry, Mohand-Saïd Saddek, Lorentz Olivier, Hicks David, Fintz Anne-Claire, Clérin Emmanuelle, Simonutti Manuel, Forster Valérie, Cavusoglu Nükhet, Chalmel Frédéric, Dollé Pascal, Poch Olivier, Lambrou George, Sahel José-Alain
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.
Nat Genet. 2004 Jul;36(7):755-9. doi: 10.1038/ng1386. Epub 2004 Jun 27.
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.
视网膜色素变性是一种无法治愈的遗传性视网膜疾病,可导致失明。该疾病始于视杆光感受器退化导致的夜视力丧失,随后是视锥光感受器不可逆转的进行性丧失。视锥细胞的丧失是主要视觉障碍的原因,因为视锥细胞对日间和高敏锐度视觉至关重要。它们的丧失是间接的,因为大多数与视网膜色素变性相关的基因并非由这些细胞表达。我们之前表明,视杆细胞分泌的因子对视锥细胞的存活至关重要。在此,我们通过表达克隆鉴定了一种这样的营养因子,并将其命名为视杆细胞衍生的视锥细胞存活因子(RdCVF)。RdCVF是一种由光感受器特异性表达的截短型硫氧还蛋白样蛋白。这种蛋白质的鉴定为视网膜色素变性提供了新的治疗可能性。