PRPF8

Disease Category: autosomal dominant

Patient Population:

Active Clinical Trials:

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research: National Basic Research Program of China, National Natural Science Foundation of China, International S&T Cooperation Program of China, Beijing Nova Program

A FACE OF RP

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BRIEF DESCRIPTION

Mutations in PRPF8 cause progressive degeneration of the retina and finally autosomal dominant retinitis pigmentosa (adRP). Autosomal dominant retinitis pigmentosa is a hereditary degenerative eye disease due to progressive cell death in rod-type and cone-type photoreceptor cells. Mutations in several core spliceosomal components such as PRPF8, SNRNP200, PRPF6 and PRPF31 have been reported to be closely related to adRP. However, the precise mechanism by which these gene mutations lead to adRP remains unknown.

IN THE NEWS

Jan 6, 2023

PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing

PRPF8 mutations have been associated with severe forms of RP and with the initiation of various types of myeloid neoplasms . . .

Jul 28, 2021

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond

Mutations in pre-mRNA processing factors (PRPF3, 4, 6, 8, 31, SNRNP200, and RP9) have been linked to 15–20% of autosomal dominant RP cases.

Mar 22, 2020

Approaches to Characterize novel pathogenic missense Variants in PRPF31

RP, classified as a rare disease, is the most common cause of inherited blindness worldwide, affecting 1:3500, but extremely heterogeneous.

Nov 25, 2016

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa

Zilin Zhong , Min Yan , Wan Sun , Zehua Wu , Liyun Han , Zheng Zhou , Fang Zheng , Jianjun Chen | Scientific Reports | 6 | 37840 | 25...

Jul 30, 2011

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent . . .

Mar 9, 2007

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

Identification of RNA transcripts associated with PRPF31-containing splicing complexes using an immunoprecipitation-coupled microarray . . .