C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.

Marian M Humphries (1) , Paul F Kenna (1) , Matthew Campbell (1) , Lawrence Cs Tam (1) , Anh Th Nguyen (1) , G Jane Farrar (1) , Marina Botto (1) , Anna-Sophia Kiang (1) , Peter Humphries (1)

1 Ocular Genetics Unit, Smurfit Institute of Genetics,

Retinitis pigmentosa (RP) is a degenerative retinal disease involving progressive loss of rod and cone-photoreceptor function. It represents the most common form of registered blindness among the working-aged populations of developed countries. Given the immense genetic heterogeneity associated with this disease, parameters influencing cone photoreceptor survival (preservation of daytime vision) that are independent of primary mutations are exceedingly important to identify from a therapeutic standpoint. Here we identify C1q, the primary component of the classical complement pathway, as a cone photoreceptor neuronal survival factor.

Mots clés: C1qa; Retinitis Pigmentosa; Cone Photoreceptors

Domaines: Génétique

Marian M Humphries, Paul F Kenna, Matthew Campbell, Lawrence Cs Tam, Anh Th Nguyen, et al.. C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa.. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.151⟩. ⟨hal-00671237⟩