NCN POLS research grant “ProteoRetina”

Finansowane przez NCN POLS grant No 2020/37/K/NZ4/02761

About ProteoRetina

In mammalian eye, the visual function depends on the formation of rod and cone photoreceptors of the retina. Rods and cones have three distinct cellular compartments: cell body, inner segment (IS), outer segment (OS), and connecting cilium (CC). The OS and CC together refer to the “sensory cilium”. Like other non-motile cilia, the axoneme of sensory cilium lacks a central pair microtubule, resulting in a 9+0 axoneme structure. The sensory cilium is loaded with proteins involved in the phototransduction cascade. Mutations in genes coding for ciliary proteins lead to ciliopathies. The retinal ciliopathies (RC) are broadly classified as two types, multi-syndromic and non-syndromic. Functional defects that affect more organs than retina result in multi-syndromic RCs, such as Senior-Loken syndrome and Bardet-Biedl syndrome. Functional defects that manifested primarily to the photoreceptor cilia result in non-syndromic RCs, such as Leber Congenital Amaurosis and Retinitis Pigmentosa (RP). RCs encompass genetically and phenotypically diverse groups of diseases and generally exhibit high frequency in the population. Currently, there are no successful causative treatments and few therapeutic measures, so understanding disease pathogenesis at the molecular level is essential for developing potential therapies.