在Pompe患者中从子牛奶中重组的人类α-葡萄糖酶
Lancet (London, England)
|September 6, 2000
概括
早期使用复合人体α-葡萄糖酶 (rhGAA) 的治疗改善了婴儿的庞培病症状. 这种酶疗法使酶活性正常化,增强了组织和心脏功能,并减少了心脏大小.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 庞培病是一种罕见的,致命的神经肌肉疾病,由 lysosomal alpha-glucosidase (GAA) 酶的缺乏引起.
- 这种缺乏导致糖原在溶酶体中积累,特别是影响肌肉细胞,导致渐进的肌肉衰弱和器官损伤,特别是心肌病.
相关概念视频
Pancreatic Juice and Secretion
Pancreatic juice is a clear fluid produced by the pancreas, containing water, salts, sodium bicarbonate, and enzymes vital for digestion in the small intestine. It helps break down large molecules, facilitating nutrient absorption.
When acidic chyme from the stomach enters the duodenum, it triggers the release of secretin, a hormone that prompts pancreatic juice secretion. After a fatty meal, cholecystokinin, another hormone, stimulates gallbladder contraction and enhances enzyme-rich...
When acidic chyme from the stomach enters the duodenum, it triggers the release of secretin, a hormone that prompts pancreatic juice secretion. After a fatty meal, cholecystokinin, another hormone, stimulates gallbladder contraction and enhances enzyme-rich...
Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Production of Pharmaceuticals
Industrial insulin production uses genetically engineered E. coli expressing a proinsulin gene controlled by a tryptophan promoter and containing a methionine linker for later cleavage. The cells also carry ampicillin resistance for selective growth. Seed cultures are stored at −80 °C and production begins by thawing a small amount to inoculate starter cultures, which are progressively scaled to a 50,000-L bioreactor. In the bioreactor, E. coli grow in nutrient-rich media under sterile, tightly...


