PATHOGENESIS OF BATTEN DISEASE

Batten 病的发病机制

• 批准号: 6108271
• 负责人: Glyn Dawson
• 金额: $ 18.39万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-01-01 至 1999-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6108271
• 关键词: apoptosis; ceramides; chick embryo; clinical research; developmental neurobiology; enzyme activity; esterase; gene mutation; human tissue; molecular pathology; neuronal ceroid lipofuscinosis; palmitates; peptidases; sphingomyelin phosphodiesterase; tissue /cell culture

This project is aimed at understanding the biochemical pathology of Batten disease (a devastating mental retardation syndrome), using lymphoblastoid cell lines and fibroblast cultures from patients and neural tissues cultures similar to those used in the other projects. In the infantile form (CLN1) we will focus on the substrate specificity on the defective palmitoyl: protein thioesterase, the storage material and the source of this storage material from neural membrane turnover. In the late infantile form (CLN2) we will focus on the substrate specificity of the defective pepstatin-insensitive carboxyl peptidase, the storage material and its source, and in the juvenile form (CLN3) we will focus on the possible role of the protein gene product in facilitating proteolysis in the lysosome.

本项目旨在了解巴滕的生化病理学 疾病（一种毁灭性的精神发育迟滞综合征），使用淋巴母细胞 来自患者和神经组织的细胞系和成纤维细胞培养物 与其他项目中使用的文化相似。在婴儿期 形式（CLN1），我们将集中在底物特异性上的缺陷 棕榈酰：蛋白质硫酯酶，储存材料和来源 这种储存物质来自神经膜的周转。在婴儿晚期 形式（CLN2），我们将集中在底物特异性的缺陷 胃蛋白酶抑制剂不敏感的羧基肽酶、储存材料及其用途 来源，并在青少年形式（CLN3），我们将重点放在可能的作用 蛋白质基因产物在溶酶体中促进蛋白质水解的作用。