在小鼠中通过向插入性突变发生的囊性纤维化
J R Dorin1, P Dickinson, E W Alton
1MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Nature
|September 17, 1992
概括
科学家们通过破坏囊性纤维化转膜导电性调节基因来创建囊性纤维化小鼠模型. 这些小鼠表现出关键疾病特征,为开发新的囊性纤维化疗法提供了宝贵的工具.
科学领域:
- 遗传学 是一个遗传学.
- 身体生理学 身体生理学
- 动物模型 动物模型
背景情况:
- 囊性纤维化是一种致命的遗传性疾病,在全球范围内影响着5万个人.
- 一个经过验证的动物模型对于理解和治疗囊性纤维化至关重要.
- 囊性纤维化转膜导电性调节器 (CFTR) 基因与这种疾病有关.
研究的目的:
- 开发一种针对囊性纤维化症的小鼠模型.
- 验证该模型在研究疾病机制和测试疗法的实用性.
主要方法:
- 基因向被用来破坏胚胎干细胞中的小鼠CFTR基因.
- 生殖基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因基因
- 在体内电生理学和组织学分析对后代进行.
主要成果:
- 同性卵性突变小鼠,缺乏功能性CFTR,在断奶后幸存下来.
- 电生理学证实有缺陷的离子运输,符合囊性纤维化.
- 组织学分析揭示了结肠,肺和分泌管中的病理,反映了人类疾病.
结论:
- 开发的插入小鼠突变代表了囊性纤维化病的有效动物模型.
- 该模型适用于研究疾病的发病因子和评估潜在的治疗干预措施.
相关概念视频
Mutations
Overview
Protein and Protein Structure
Proteins are one of the most abundant organic molecules in living systems and have the most diverse range of functions of all macromolecules. Proteins may be structural, regulatory, contractile, or protective. They may serve in transport, storage, or membranes; or they may be toxins or enzymes. Their structures, like their functions, vary greatly. They are all, however, amino acid polymers arranged in a linear sequence.
A protein's shape is critical to its function. For example, an enzyme can...
A protein's shape is critical to its function. For example, an enzyme can...
Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Gene Conversion
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...
Mechanism of Filopodia Formation
Filopodia are thin, actin-rich cellular protrusions that play an important role in many fundamental cellular functions. They vary in their occurrence, length, and positioning in different cell types, suggesting their diverse roles.
Their main function is to guide migrating cells during normal tissue morphogenesis or cancer metastasis by recognizing and making initial contacts with the extracellular matrix. However, they can also act as stationary cell anchors or help to establish communication...
Their main function is to guide migrating cells during normal tissue morphogenesis or cancer metastasis by recognizing and making initial contacts with the extracellular matrix. However, they can also act as stationary cell anchors or help to establish communication...


