性发育障碍的基因治疗:当前的应用和未来的挑战
Wenyuan Peng1, Qian Zhao1, Jiali Chen1
1Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Frontiers in genetics
|November 12, 2025
概括
基因疗法通过向关键基因来治疗性发育障碍 (DSD) 是有前途的. 然而,诸如非目标效应和关于生殖线编辑的伦理问题等挑战需要对临床翻译进行仔细考虑.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 生殖生物学 生殖生物学
- 生物技术是生物技术.
背景情况:
- 性发育障碍 (DSD) 涉及先天性状况与性别差异化的差异.
- 基因组诊断和基因编辑方面的进展为DSD提供了新的治疗途径.
- 关键的性别决定基因 (SRY,SOX9,NR5A1,WT1,FOXL2,AR) 在DSD病变发生过程中至关重要.
研究的目的:
- 审查DSD亚型中关键的性别决定基因的作用.
- 探索当前和新兴的基因疗法策略用于DSD治疗.
- 讨论与DSD基因疗法相关的技术和伦理挑战.
主要方法:
- 对DSD遗传学和基因治疗的文献进行系统审查.
- 对基因编辑工具 (CRISPR/Cas9,TALENs,ZFNs) 和病毒载体 (lentivirus,AAV) 的分析.
- 在DSD模型中检查使用基因治疗的体外和体内研究.
主要成果:
- 克里斯普尔/卡斯9在体外证明了基因校正和表观遗传修饰的潜力.
- 病毒载体促进了基因传递和表达,在小鼠模型中恢复了部分丸功能in vitro和生育in vivo.
- 仍然存在重大挑战,包括非目标效应,免疫性和长期疗效.
结论:
- 基因疗法在DSD诊断和治疗方面具有变革性的潜力.
- 伦理考虑,特别是对于生殖系编辑,需要谨慎和严格的监督.
- 未来的研究必须专注于DSD疗法的安全性,精度和道德指导的临床翻译.
相关概念视频
00:59Gene Therapy
27.3K
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
27.3K
01:43Sex-linked Disorders
108.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.2K
00:49What is Genetic Engineering?
79.6K
Overview
79.6K
01:29Microorganisms in Medicine and Therapeutics
922
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
922
01:20Disorders of the Male Reproductive System
3.9K
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
3.9K
01:28Human Genetics
1.4K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.4K