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A new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells.
Yu, Yixin; Xia, Xiaobo; Li, Haibo; Zhang, Yangzhou; Zhou, Xiaoyun; Jiang, Haibo.
Afiliação
  • Yu Y; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
  • Xia X; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
  • Li H; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
  • Zhang Y; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
  • Zhou X; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
  • Jiang H; Department of Ophthalmology, Xiangya Hospital, Central South University, Changsha, China.
J Cell Physiol ; 234(8): 14100-14108, 2019 08.
Article em En | MEDLINE | ID: mdl-30635925
ABSTRACT
Rhodopsin mutations are associated with the autosomal-dominant form of retinitis pigmentosa (RP). Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W). ARPE-19 cells were transfected with myc-tagged wild-type (WT) and R135W rhodopsin constructs. The half-life of WT and R135W rhodopsin was analyzed via cycloheximide chase analysis. We found that R135W rhodopsin was accumulated in the endoplasmic reticulum (ER) and induced unfolded protein response (UPR) and apoptosis. Moreover, chaperone HSP70 alleviated ER stress and prevented apoptosis induced by R135W rhodopsin by attenuating UPR signaling. These findings reveal the novel pathogenic mechanism of RP and suggest that chaperone HSP70 has potential therapeutic significance for RP.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodopsina / Glaucoma de Ângulo Fechado / Retinose Pigmentar / Microftalmia / Hiperopia Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Cell Physiol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rodopsina / Glaucoma de Ângulo Fechado / Retinose Pigmentar / Microftalmia / Hiperopia Limite: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Cell Physiol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China