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子宫内基因治疗及其在遗传性听力损失中的应用。

In Utero Gene Therapy and its Application in Genetic Hearing Loss.

机构信息

Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Institute of Otorhinolaryngology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

出版信息

Adv Biol (Weinh). 2024 Oct;8(10):e2400193. doi: 10.1002/adbi.202400193. Epub 2024 Jul 15.

Abstract

For monogenic genetic diseases, in utero gene therapy (IUGT) shows the potential for early prevention against irreversible and lethal pathological changes. Moreover, animal models have also demonstrated the effectiveness of IUGT in the treatment of coagulation disorders, hemoglobinopathies, neurogenetic disorders, and metabolic and pulmonary diseases. For major alpha thalassemia and severe osteogenesis imperfecta, in utero stem cell transplantation has entered the phase I clinical trial stage. Within the realm of the inner ear, genetic hearing loss significantly hampers speech, cognitive, and intellectual development in children. Nowadays, gene therapies offer substantial promise for deafness, with the success of clinical trials in autosomal recessive deafness 9 using AAV-OTOF gene therapy. However, the majority of genetic mutations that cause deafness affect the development of cochlear structures before the birth of fetuses. Thus, gene therapy before alterations in cochlear structure leading to hearing loss has promising applications. In this review, addressing advances in various fields of IUGT, the progress, and application of IUGT in the treatment of genetic hearing loss are focused, in particular its implementation methods and unique advantages.

摘要

对于单基因遗传疾病,子宫内基因治疗(IUGT)显示出早期预防不可逆和致命的病理变化的潜力。此外,动物模型还证明了 IUGT 在治疗凝血障碍、血红蛋白病、神经遗传疾病以及代谢和肺部疾病方面的有效性。对于严重的α地中海贫血和严重的成骨不全症,子宫内干细胞移植已进入 I 期临床试验阶段。在内耳领域,遗传性听力损失严重阻碍了儿童的言语、认知和智力发展。如今,基因疗法为耳聋带来了巨大的希望,AAV-OTOF 基因疗法治疗常染色体隐性耳聋 9 的临床试验取得了成功。然而,导致耳聋的大多数基因突变会影响胎儿出生前耳蜗结构的发育。因此,在导致听力损失的耳蜗结构改变之前进行基因治疗具有广阔的应用前景。在这篇综述中,我们探讨了 IUGT 的各个领域的进展,重点介绍了 IUGT 在治疗遗传性听力损失方面的进展和应用,特别是其实施方法和独特优势。

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