Animal Core

动物核心

• 批准号: 7741484
• 负责人: MICHAEL J. WELSH
• 金额: $ 28.86万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-07-01 至 2014-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7741484
• 关键词: Address; Affect; Animal Model; Animals; Catheters; Chest; Confocal Microscopy; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Disease; Ensure; Family suidae; Fluorescence Bronchoscopy; Gallbladder; Gene Transfer; Genes; Histopathology; Human; Human Resources; Image; Infection; Inflammation; Intestines; Knowledge; Lasers; Life; Liver; Lung; Male Genital Organs; Morbidity - disease rate; Mouse Strains; Mutation; Neonatal; Organ; Pancreas; Pancreatic Diseases; Pathogenesis; Patients; Pulmonary Cystic Fibrosis; Research Personnel; Resolution; Sweat Glands; base; cystic fibrosis mouse; disease-causing mutation; effective therapy; experience; gene therapy; improved; mortality; programs; skills; success

Cystic fibrosis (CF) is a common autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) (1). CF affects multiple organs, including lungs, pancreas, intestine, liver, sweat glands, gall bladder and male genital tract. Airway infection and inflammation cun'ently cause most of the morbidity and mortality. Although several therapies have improved the lives of patients, current treatments are inadequate and CF remains a lethal disease. Our knowledge about the pathogenesis of the disease, its progression, and the state of the neonatal lung is inadequate. Moreover, despite the potential of gene transfer to be an effective treatment, some of the most fundamental questions remain unanswered. These gaps in our knowledge have hindered attempts to develop better treatments and preventions for CF lung disease. A major impediment to addressing these issues has been limitations of current animal models. Although mouse strains carrying null and missense CFTR mutations have made enormous contributions, CF mice do not develop the airway or pancreatic disease typically found in humans.

囊性纤维化（CF）是一种常见的常染色体隐性遗传病，由基因突变引起 编码囊性纤维化跨膜电导调节因子 (CFTR) (1)。 CF 影响多个 器官，包括肺、胰腺、肠、肝、汗腺、胆囊和男性生殖道。 气道感染和炎症目前并不是大多数发病和死亡的原因。虽然 多种疗法改善了患者的生活，但目前的治疗方法不足，CF 仍然是一种致命的疾病。我们对疾病发病机制及其进展的了解， 新生儿的肺部状况不佳。此外，尽管基因转移有潜力 虽然这种方法无法有效治疗，但一些最基本的问题仍未得到解答。这些 我们的知识差距阻碍了开发更好的 CF 治疗和预防的尝试 肺部疾病。解决这些问题的一个主要障碍是当前技术的局限性 动物模型。尽管携带 CFTR 无效突变和错义突变的小鼠品系已使 巨大的贡献，CF 小鼠不会出现常见的气道或胰腺疾病 人类。