Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
复制标题
DOI：
10.1016/j.bbadis.2015.05.011
复制
发表时间：
2015-10
期刊：
影响因子：
--
通讯作者：
Cotman SL
中科院分区：
文献类型：
--
作者：
Mole SE;Cotman SL
神经元蜡样脂褐质沉积症（NCL）是一组影响儿童和成人的遗传性神经退行性疾病，并且通过相似的临床特征和自发荧光储存物质的积累而被分组在一起。已经确定了十几个基因，其中包含超过430个突变，这些突变是人类NCL的基础。这些基因编码溶酶体酶（CLN1、CLN2、CLN10、CLN13）、可溶性溶酶体蛋白（CLN5）、分泌途径中的蛋白（CLN11）、也与膜外周结合的两种细胞质蛋白（CLN4、CLN14）以及具有不同亚细胞位置的许多跨膜蛋白（CLN3、CLN6、CLN7、CLN8、CLN12）。对于大多数NCL，致病基因的功能尚未完全确定。这些基因中的大多数突变与典型的疾病表型相关，但有些突变导致可变的疾病发作、严重程度和进展，包括不同的临床表型。仍然存在分子遗传背景未知的疾病亚组。这篇文章是特刊的一部分，题为：神经元蜡样脂褐质病或巴滕病。
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults, and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing over 430 mutations underlying human NCLs have been identified. These genes encode lysosomal enzymes (CLN1, CLN2, CLN10, CLN13), a soluble lysosomal protein (CLN5), a protein in the secretory pathway (CLN11), two cytoplasmic proteins that also peripherally associate with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12). For most NCLs, the function of the causative gene has not been fully defined. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression, including distinct clinical phenotypes. There remain disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.