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A systemic view on retinal ciliopathies: inherited retinal degeneration revisited
Author(s) -
ROEPMAN R
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.479.x
Subject(s) - ciliopathies , cilium , bardet–biedl syndrome , ciliopathy , joubert syndrome , biology , retinal degeneration , neuroscience , retinal , genetics , retina , exocyst , microbiology and biotechnology , phenotype , gene , biochemistry , protein subunit
Although over 200 different genes causing inherited retinal degeneration (IRD) have been mapped to date, a number that is steadily increasing, the molecular pathogenesis in most cases remains largely unknown. An increasing group of IRD genes encode proteins that localize to the connecting cilium of the photoreceptor cells, the structure that connects the inner to the outer segment. Interestingly, mutations in these genes are often not only causing retinal dystrophy, but can lead to a wide spectrum of phenotypes including renal failure, deafness, obesity, hypertension, and cognitive disabilities. The common denominator in these diseases is a dysfunctional cilium, a microtubule‐based protrusion from the cell membrane with a wide variety of functions, such as propulsion, intracellular transport, mechano‐ and chemosensation. Therefore, this group of disorders in now commonly referred to as “ciliopathies”. By structurally dissecting the protein‐protein interaction networks of retinal proteins involved in ciliopathies, we are gaining a detailed view on the complex disease mechanisms underlying this newly defined group of disorders, and are starting to understand the tremendous importance of the cilium in cell function.