A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Gene
; 707: 86-92, 2019 Jul 30.
Article
en En
| MEDLINE
| ID: mdl-31071385
ABSTRACT
Retinitis pigmentosa (RP) is the most common form of inherited retinal degenerative diseases. X-linked RP accounts for nearly 15% of all RP cases. In this study, we identified a novel RP2 missense mutation Q158P in a Chinese XLRP family. The RP2 Q158P mutation located in the RP2 TBCC domain and obviously destabilized RP2 protein in ARPE-19 cells. The proteasome inhibitor MG132 could restore the RP2 Q158P protein levels. Meanwhile, lower doses of bortezomib and carfilzomib, another two proteasome inhibitors that have been approved in multiple myeloma clinical therapy, also could rescue the RP2 Q158P protein levels. The ubiquitination of RP2 Q158P protein obviously increased when compared with wild type RP2 protein. Our findings broadened the spectrum of RP2 mutations and may contribute a better understanding of the molecular mechanism of XLRP.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
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Mutación Missense
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Enfermedades Genéticas Ligadas al Cromosoma X
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Péptidos y Proteínas de Señalización Intracelular
/
Proteínas del Ojo
/
Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Gene
Año:
2019
Tipo del documento:
Article
País de afiliación:
China