Archives de Pédiatrie, Год журнала: 2023, Номер 30(8), С. 8S41 - 8S45
Опубликована: Ноя. 1, 2023
Язык: Английский
Medicina, Год журнала: 2024, Номер 60(1), С. 189 - 189
Опубликована: Янв. 22, 2024
Retinitis pigmentosa is an inherited disease, in which mutations different types of genes lead to the death photoreceptors and loss visual function. Although retinitis most common type retinal dystrophy, a clear line therapy has not yet been defined. In this review, we will focus on therapeutic aspect attempt define advantages disadvantages protocols therapies. The role some therapies, such as antioxidant agents or gene therapy, established for years now. Many clinical trials causing RP have conducted, approval voretigene nepavorec by FDA important step forward. Nonetheless, even if promising treatment these patients, other innovative strategies, stem cell transplantation hyperbaric oxygen shown be safe improve quality during trials. disease remains challenge, hope find solution soon possible.
Язык: Английский
Процитировано
8
Biomolecules, Год журнала: 2024, Номер 14(8), С. 903 - 903
Опубликована: Июль 25, 2024
Retinitis pigmentosa (RP) poses a significant threat to eye health worldwide, with prevalence rates of 1 in 5000 worldwide. This genetically diverse retinopathy is characterized by the loss photoreceptor cells and atrophy retinal pigment epithelium. Despite involvement more than 3000 mutations across approximately 90 genes its onset, finding an effective treatment has been challenging for considerable time. However, advancements scientific research, especially gene therapy, are significantly expanding options this most prevalent inherited disease, discovery new compounds, gene-editing techniques, loci offering hope treatments. Gene promising technology, utilizes viral or non-viral vectors correct genetic defects either replacing silencing disease-causing genes, potentially leading complete recovery. In review, we primarily focus on latest applications editing research RP. We delve into associated RP discuss genome-editing strategies currently employed various mutations.
Язык: Английский
Процитировано
7
RNA Biology, Год журнала: 2024, Номер 21(1), С. 1 - 9
Опубликована: Май 19, 2024
The RNA-targeting CRISPR-Cas13 system has enabled precise engineering of endogenous RNAs, significantly advancing our understanding RNA regulation and the development RNA-based diagnostic therapeutic applications. This review aims to provide a summary Cas13-based targeting tools applications, discuss limitations challenges existing suggest potential directions for further system.
Язык: Английский
Процитировано
5
Pharmacological Research, Год журнала: 2025, Номер unknown, С. 107638 - 107638
Опубликована: Янв. 1, 2025
Язык: Английский
Процитировано
0
Human Gene Therapy, Год журнала: 2024, Номер 35(5-6), С. 151 - 162
Опубликована: Фев. 18, 2024
Mutations in the rhodopsin (RHO) gene are predominant causes of autosomal dominant retinitis pigmentosa (adRP). Given diverse gain-of-function mutations, therapeutic strategies targeting specific sequences face significant challenges. Here, we provide a universal approach to conquer this problem: have devised CRISPR-Cas12i-based, mutation-independent knockout and replacement compound therapy carried by dual AAV2/8 system. In study, successfully delayed progression retinal degeneration classic mouse disease model RhoP23H, also RhoP347S, new native mutation developed. Our research expands horizon potential options for future treatments RHO-mediated adRP.
Язык: Английский
Процитировано
2
Cureus, Год журнала: 2024, Номер unknown
Опубликована: Авг. 13, 2024
Retinitis pigmentosa, or RP, is a group of inherited retinal degenerations involving progressive loss photoreceptor cells- rods and cones- ultimately causing severe vision blindness. although very common ailment, continues to be an incurable disease with little done medically. However, the breakthroughs in gene therapy stem cell transplantation recent years, new door has been opened treatment RP. This narrative review summarizes pathomolecular mechanisms focusing on genetic molecular abnormalities that lead process degeneration. In this section, we talk about current theories how RP develops, mutations, oxidative stress, inflammation. We also delve into therapeutic approaches such as therapy, genome surgery, which are designed either replace repair damaged photoreceptors restore enhance life patient. Another topic covered obstacles research frontiers these revolutionary treatments. article intended give complete overview processes promising strategies could change way devastating treated.
Язык: Английский
Процитировано
2
Genome biology, Год журнала: 2024, Номер 25(1)
Опубликована: Дек. 5, 2024
CRISPR/Cas13 system, recognized for its compact size and specificity in targeting RNA, is currently employed RNA degradation. However, the potential of various subtypes, particularly concerning knockdown endogenous transcripts, remains to be comprehensively characterized plants. Here we present a full spectrum editing profiles seven Cas13 orthologs from five distinct subtypes: VI-A (LwaCas13a), VI-B (PbuCas13b), VI-D (RfxCas13d), VI-X (Cas13x.1 Cas13x.2), VI-Y (Cas13y.1 Cas13y.2). A systematic evaluation effects on two transcripts (GhCLA GhPGF cotton) as well an virus (TMV tobacco) reveals that RfxCas13d, Cas13x.1, Cas13x.2 exhibit enhanced stability with efficiencies ranging 58 80%, closely followed by Cas13y.1 Cas13y.2. Notably, both Cas13x.1 can simultaneously degrade through tRNA-crRNA cassette approach, achieving up 50%. Furthermore, different enable varying degrees transcript minimal off-target effects, generating germplasms diverse mutant phenotypes. Transgenic tobacco plants show significant reductions damage, along mild oxidative stress accumulation viral particles after TMV infection. In conclusion, our study presents efficient reliable platform transcriptome holds promise plant functional research future crop improvement.
Язык: Английский
Процитировано
2
Medical Review, Год журнала: 2024, Номер 4(2), С. 110 - 128
Опубликована: Март 19, 2024
Abstract From the approval of COVID-19 mRNA vaccines to 2023 Nobel Prize awarded for nucleoside base modifications, RNA therapeutics have entered spotlight and are transforming drug development. While term “RNA therapeutics” has been used in various contexts, this review focuses on treatments that utilize as a component or target therapeutic effects. We summarize latest advances RNA-targeting tools RNA-based technologies, including but not limited mRNA, antisense oligos, siRNAs, small molecules editors. focus mechanisms current FDA-approved also provide discussion upcoming workforces. The clinical utility is enabled only by technologies conjunction with significant improvements chemical modifications delivery platforms, which briefly discussed review. based their effects, include expressing proteins vaccination protein replacement therapies, degrading deleterious RNA, modulating transcription translation efficiency, targeting noncoding RNAs, binding activity editing sequences modifications. This emphasizes concept an toolbox, pinpointing readers all available desired research goals. As field advances, catalog continues grow, further allowing researchers combine appropriate suitable platforms develop tailored specific challenges.
Язык: Английский
Процитировано
1
Israel Journal of Chemistry, Год журнала: 2024, Номер 64(3-4)
Опубликована: Фев. 16, 2024
Abstract The complexity of eukaryotic organisms is intricately tied to transcriptome‐level processes, notably alternative splicing and the precise modulation gene expression through a sophisticated interplay involving RNA‐binding protein (RBP) networks their RNA targets. Recent advances in our understanding molecular pathways responsible for this control have paved way development tools capable steering managing regulation expression. fusion between rapidly developing endogenous burgeoning capabilities CRISPR‐Cas other programmable RBP platforms has given rise an exciting frontier engineered regulators. This review offers overview existing toolkit constructing synthetic regulators using RBPs effector domains, altering sequence composition or fate, explores diverse applications both basic research therapeutic contexts.
Язык: Английский
Процитировано
0
FEBS Letters, Год журнала: 2024, Номер unknown
Опубликована: Сен. 26, 2024
As the most compact variant in Cas13 family, CRISPR‐Cas13X holds considerable promise for gene therapy applications. The development of high‐fidelity Cas13X (hfCas13X) mutants has enhanced safety profile vivo However, a notable reduction on‐target cleavage efficiency accompanies diminished collateral activity hfCas13X. In this study, we obtained two engineered crRNA that notably enhance Furthermore, have identified novel structure consistently augments hfCas13X across various cellular environments, without significant enhancement its activity. These findings collectively enrich gene‐editing toolkit, presenting more effective system future research and application.
Язык: Английский
Процитировано
0