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Retinitis pigmentosa (RP) is a genetically heterogeneous group of diseases that causes
blindness. RP can be inherited as an X-linked, autosomal recessive or autosomal dominant
disease. Mutations within the rhodopsin gene account for approximately 25% of autosomal
dominantly inherited RP cases. Therefore understanding the mechanisms causing
rhodopsin-mediated RP has a significant ... read morehealth impact. To date, results from multiple
labs indicate that rhodopsin-mediated RP pathogenesis does not share a common mechanism
of degeneration. There is strong evidence that multiple mechanisms are involved,
including protein misfolding, mislocalization, release of toxic products and aberrant
signaling. This thesis investigates the molecular mechanisms involved in the retinal
degeneration of the P347S mutant rhodopsin mouse model of retinitis pigmentosa. Through
the use of transgenic animal models the involvement of persistent photosignaling,
aberrant rhodopsin-arrestin complexes, chromophore toxicity and galectin-1 in retinal
degeneration are investigated. Additionally, the involvement of glycogenes are
investigated with a custom gene microarray.
(Ph.D.)--Tufts University, 2011.
Submitted to the
Dept. of Neuroscience.
Advisors: Janis Lem, and Jim
Committee: Dan Jay, Noorjahan Panjwani, and