Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
National University Health Systems, Singapore, Singapore.
Prenat Diagn. 2023 May;43(5):674-686. doi: 10.1002/pd.6347. Epub 2023 Apr 5.
Proof-of-principle disease models have demonstrated the feasibility of an intrauterine gene modification therapy (in utero gene therapy (IUGT)) approach to hereditary diseases as diverse as coagulation disorders, haemoglobinopathies, neurogenetic disorders, congenital metabolic, and pulmonary diseases. Gene addition, which requires the delivery of an integrating or episomal transgene to the target cell nucleus to be transcribed, and gene editing, where the mutation is corrected within the gene of origin, have both been used successfully to increase normal protein production in a bid to reverse or arrest pathology in utero. While most experimental models have employed lentiviral, adenoviral, and adeno-associated viral vectors engineered to efficiently enter target cells, newer models have also demonstrated the applicability of non-viral lipid nanoparticles. Amelioration of pathology is dependent primarily on achieving sustained therapeutic transgene expression, silencing of transgene expression, production of neutralising antibodies, the dilutional effect of the recipient's growth on the mass of transduced cells, and the degree of pre-existing cellular damage. Safety assessment of any IUGT strategy will require long-term postnatal surveillance of both the fetal recipient and the maternal bystander for cell and genome toxicity, oncogenic potential, immune-responsiveness, and germline mutation. In this review, we discuss advances in the field and the push toward clinical translation of IUGT.
原理验证疾病模型已经证明了宫内基因修饰治疗(宫内基因治疗(IUGT))方法对于各种遗传性疾病的可行性,这些疾病包括凝血障碍、血红蛋白病、神经遗传疾病、先天性代谢和肺部疾病。基因添加,需要将整合或附加型转基因递送到靶细胞核内进行转录,以及基因编辑,其中在原始基因内纠正突变,都已成功用于增加正常蛋白质的产生,以逆转或阻止宫内病理学。虽然大多数实验模型都采用了经过工程改造的慢病毒、腺病毒和腺相关病毒载体,以有效地进入靶细胞,但新模型也证明了非病毒脂质纳米颗粒的适用性。病理学的改善主要取决于实现持续的治疗性转基因表达、转基因表达的沉默、中和抗体的产生、受者生长对转导细胞质量的稀释效应以及预先存在的细胞损伤程度。任何 IUGT 策略的安全性评估都需要对胎儿受者和母体旁观者进行长期的产后监测,以评估细胞和基因组毒性、致癌潜能、免疫反应性和种系突变。在这篇综述中,我们讨论了该领域的进展以及将 IUGT 推向临床转化的推动。