Our lab investigates molecular and cell biological bases of severe photoreceptor degenerative disorders, such as Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA). Our studies have identified three key ciliary proteins that are involved in protein trafficking to the sensory cilium of photoreceptors: RPGR, RP2 and CEP290.
Mutations in the RP2 gene are associated with X-linked forms of retinitis pigmentosa, which is characterized by progressive degeneration of rod photoreceptors (resulting in night blindness) followed by death of cone photoreceptor (responsible for day vision). Our studies reported in the present article revealed that ablation of Rp2 in mice results in early onset and progressive cone photoreceptor defect and a slow degeneration of rods.
Two new projects are focused on finding treatments for the most common type of Leber congenital amaurosis (LCA), a severe form of retinitis pigmentosa that causes blindness or severe vision loss at birth. Dr. Rob Collin, Radboud University in the Netherlands, and Dr. Hemant Khanna, University of Massachusetts Medical School, are both developing therapies for LCA caused by defects in the gene CEP290.
The primary cilium is a microtubule-based extension of the plasma membrane, which is present in almost all cell types. Ciliary microtubules extend from a basal body (or mother centriole), which docks at the apical membrane. Elegant studies have been carried out to determine the mechanism that regulates the docking of the mother centriole at the membrane for cilia formation.
Cilia are unique cellular organelles found in nearly all cell types. In recent years, the importance of these organelles has been highlighted by the discovery that mutations in genes encoding proteins related to cilia biogenesis and function cause a class of complex syndromes termed ciliopathies. Emerging evidence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanisms by which these interactions generate functional networks have remained elusive.
Retina Ciliopathies: From Genes to Mechanisms and Treatment In recent years numerous mutations in genes encoding proteins involved in development, structure, function and maintenance of photoreceptor cilia have been linked to human disease. The preARVO 2012 satellite meeting will review the latest developments in retina ciliopathies including retinitis pigmentosa, Leber congenital amaurosis, and Usher/ Bardet-Biedl syndromes.
Gene Therapy Cures Retinitis Pigmentosa in Dogs Jan. 23, 2012 — Members of a University of Pennsylvania research team have shown that they can prevent, or even reverse, a blinding retinal disease, X-linked Retinitis Pigmentosa, or XLRP, in dogs.
New Animal Model Improves Understanding of XLRP Due to RP2 Mutations June 12, 2013 – Foundation-funded researchers have created a mouse model of X-linked retinitis pigmentosa (XLRP) caused by defects in the gene RP2 — an advancement that gives them a platform for learning more about the disease and developing potential therapies for future human studies. Results of the research were published in the journal Investigative Ophthalmology & Visual Science (IOVS).
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