向基因 C9orf72 肌缩侧面硬化症的发病因子
Zhao Zhong Chong1, Nizar Souayah2
1Department of Neurology, New Jersey Medical School, Rutgers University, 185 S Orange, Newark, NJ 07103, USA.
International journal of molecular sciences
|May 14, 2025
概括
基因C9orf72的六核酸重复扩张会通过有毒的功能增益和功能丧失机制引起肌缩性侧面硬化症 (ALS). 针对这些扩展对于开发有效的ALS疗法至关重要.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 肌缩侧面硬化症 (ALS) 是一种致命的神经退行性疾病,没有治愈.
- C9orf72基因突变,特别是六核酸重复扩张 (HRE),是ALS最常见的遗传原因.
- 了解C9orf72 HRE的致病机制对于治疗开发至关重要.
研究的目的:
- 审查有关ALS.中C9orf72 HRE病原学的文献.
- 阐明双重的功能增益和功能丧失机制.
- 讨论当前的治疗策略和未来的方向.
主要方法:
- 关于C9orf72突变和ALS病变的研究的文献综述.
- 分析分子机制,包括RNA焦点和二重复 (DPR) 形成.
- 检查C9ORF72蛋白的功能及其细胞中的作用.
主要成果:
- C9orf72 HRE通过RNA焦点和DPRs引起有毒的功能增益,破坏RNA处理,蛋白相互作用和细胞功能.
- HRE导致C9ORF72功能丧失,损害自,增加氧化应激,并引起炎症.
- 目前针对C9orf72 HRE的治疗方法取得了有限的成功.
结论:
- C9orf72 HRE的发病过程复杂,涉及有毒的功能增加和功能丧失.
- 对针对C9orf72 HRE的药理和分子调制剂进行进一步的研究是必要的.
- 开发有效的ALS疗法需要对这些遗传缺陷有更深入的了解和精确的向.
相关概念视频
In-vitro Mutagenesis
13.6K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
13.6K
Targeted Cancer Therapies
7.4K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.4K
Reporter Genes
11.1K
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
11.1K
Gene Therapy
25.0K
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...
25.0K
Conservative Site-specific Recombination and Phase Variation
5.9K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
5.9K


