Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy

Biallelic pathogenic variants in the USH2A gene result in Usher syndrome type Ⅱ and non-syndromic retinitis pigmentosa, both of which entail the progressive loss of photoreceptors leading to blindness. The cDNA of the USH2A gene is extensive, consisting of 15 606 base pairs, rendering it impractical...

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Bibliographic Details
Published inChung-hua yen k'o tsa chih Vol. 59; no. 12; p. 1058
Main Authors Li, W Y, Sui, R F
Format Journal Article
LanguageChinese
Published China 11.12.2023
Subjects
Exons
Extracellular Matrix Proteins - genetics
Genetic Therapy
Humans
Mutation
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - therapy
Usher Syndromes - genetics
Usher Syndromes - therapy
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Summary:Biallelic pathogenic variants in the USH2A gene result in Usher syndrome type Ⅱ and non-syndromic retinitis pigmentosa, both of which entail the progressive loss of photoreceptors leading to blindness. The cDNA of the USH2A gene is extensive, consisting of 15 606 base pairs, rendering it impractical for delivery via adeno-associated virus vectors for gene replacement therapy. Notably, exon 13 has emerged as a focal point for therapeutic intervention, given its predilection for harboring the most pathogenic variants within USH2A. Recent intervention studies targeting USH2A exon 13 through the utilization of antisense oligonucleotides, genome editing, and RNA editing approaches have exhibited promising therapeutic potential. This paper provides a comprehensive overview of the molecular mechanisms, outcome data, and the challenges associated with the application of these interventions in this domain.
ISSN:0412-4081
DOI:10.3760/cma.j.cn112142-20231024-00169