针对脯氨酸-23-组氨酸常染色体显性遗传性视网膜色素变性的反义寡核苷酸疗法
Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa.
作者信息
Justin Grant A, Girach Aniz, Maldonado Ramiro S
机构信息
Department of Ophthalmology, Duke University, Durham, North Carolina, USA.
ProQR Therapeutics, Leiden, Netherlands.
出版信息
Curr Opin Ophthalmol. 2023 May 1;34(3):226-231. doi: 10.1097/ICU.0000000000000947. Epub 2023 Mar 14.
PURPOSE OF REVIEW
To discuss antisense oligonucleotide (ASON) therapy for autosomal dominant retinitis pigmentosa (adRP) caused by the proline-23-histidine (P23H) mutation in the rhodopsin gene.
RECENT FINDINGS
Viral and nonviral therapies to treat adRP are currently under investigation. A promising therapeutic option is a nonviral approach using ASONs. This form of genetic therapy has demonstrated a dose-dependent and highly selective reduction of P23H mutant rhodopsin mRNA in animal models, and it is currently being investigated as a human phase 1/2 clinical trial.
SUMMARY
There are promising new therapies to treat adRP. ASON has shown encouraging results in animal models and has undergone a phase 1 clinical trial. ASON does not use a viral vector, is delivered with standard intravitreal injection, and its effects are reversible.
综述目的
探讨针对由视紫红质基因中脯氨酸-23-组氨酸（P23H）突变引起的常染色体显性遗传性视网膜色素变性（adRP）的反义寡核苷酸（ASON）疗法。
最新发现
目前正在研究用于治疗adRP的病毒和非病毒疗法。一种有前景的治疗选择是使用ASON的非病毒方法。这种基因治疗形式在动物模型中已证明可剂量依赖性且高度选择性地降低P23H突变视紫红质mRNA，目前正在作为1/2期人体临床试验进行研究。
总结
有前景的新疗法可用于治疗adRP。ASON在动物模型中已显示出令人鼓舞的结果，并已进行了1期临床试验。ASON不使用病毒载体，通过标准玻璃体内注射给药，且其效果是可逆的。
Zotero 插件