对视网膜退化的基因疗法
1Washington University School of Medicine, 660 South Euclid Avenue, Box 8096, St. Louis, MO 63110, USA.
Cell
|March 24, 2018
概括
使用腺病毒载体的基因治疗将正常的RPE65蛋白传递给视网膜细胞. 这种治疗恢复了由RPE65基因突变引起的遗传视网膜退化症患者的视觉循环和视力.
科学领域:
- 眼科 眼科
- 遗传学
- 分子生物学
背景情况:
- 遗传性视网膜退化 (IRDs) 通常是由RPE65基因的双基因突变引起的.
- 这些突变会破坏视觉循环,导致逐渐的视力丧失.
研究的目的:
- 开发和评估与RPE65相关的新型基因疗法.
- 通过基因增强恢复视觉循环和视觉功能.
主要方法:
- 通过手术将携带正常人类RPE65基因的腺病毒载体输入视网膜细胞.
- 视觉循环恢复和视觉功能恢复的评估.
主要成果:
- 基因治疗成功地将功能性RPE65蛋白传递到视网膜细胞中.
- 观察到视力周期的恢复和部分视力恢复.
结论:
- 腺病毒载体介导的RPE65基因疗法是治疗RPE65相关IRD的一种可行的方法.
- 这种"床边治疗"有可能恢复受影响个体的视力.
相关概念视频
Gene Therapy
27.7K
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...
27.7K
Group Therapy
460
Group therapy is a sociocultural approach to psychological treatment, where individuals with shared psychological challenges come together under the guidance of a mental health professional. This therapeutic modality offers unique opportunities for individuals to connect, share, and grow within the context of a supportive group. By fostering mutual understanding and collaboration, group therapy can address a range of psychological concerns effectively, often complementing or surpassing the...
460
Gene Flow
38.1K
Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
38.1K
Gene Conversion
10.7K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
10.7K
Gene Families
10.0K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.0K
What is Gene Expression?
197.1K
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
197.1K


