PRPF31

Disease Category: autosomal dominant

Patient Population:

Active Clinical Trials: 1 recruiting

Check clinicaltrials.gov for updates

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research: Oslo University Hospital

A FACE OF RP

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IN THE NEWS

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.

Jul 6, 2020

Biogen boosts gene therapy strategy with Harvard pact focused on inherited eye disease

Mutations in PRPF31 cause many more cases of RP than do mutations in RPE65, the gene targeted by Spark Tx Luxturna, Harvard researchers say.

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

PRPF31 mutations cause photoreceptor loss and retinal degeneration. This finding prompted us to test the hypothesis that PRPF31 may play a critical role for pre-mRNA splicing of retina-specific genes. . . . Among the potential target genes identified by this approach are a number of retina-specific genes involved in phototransduction, the visual cycle, photoreceptor structure, transcription factors and other genes important for photoreceptor survival and function (Table 1). [Table 1 lists SNRNP.]

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

Jun Yin, Jan Brocher, Utz Fischer, Christoph Winkler

| Molecular Neurodegeneration | Vol. 6, Issue 56 | 2011 | doi.org/10.1186/1750-1326-6-56

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent the second-largest contribution to RP after mutations in rhodopsin. These genes include PRPF3, PRPF8, PRPF31, PAP1 and SNRN200. All these genes encode core components of the U4/U6.U5 tri-snRNP complex which constitutes a major building block of the pre-mRNA processing spliceosome.

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