Abstract

Rhodopsin gene mutant is the most common cause of retinitis pigmentosa(RP),accounting for about 25% to 30% of autosomal dominant retinitis pigmentosa(ADRP).More than 150 different mutations responsible for ADRP have been found.Rhodopsin mutations induce endoplasmic reticulum stress,protein aggregation,abnormal activation of membrane receptors,causing RP.P23H and T17M and other mutant mice of transgenic models were useful for investigating the role of rhodopsin in RP.It will provide a theoretical basis for interfering with the expression of the mutant gene,replacing the mutated gene and other potential therapeutic strategies. Key words: retinitis pigmentosa; rhodopsin gene; transgenic animal ; genetic therapy

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call