Järvelä I, Sainio M, Rantamäki T, Olkkonen V M, Carpén O, Peltonen L, Jalanko A
National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland.
Hum Mol Genet. 1998 Jan;7(1):85-90. doi: 10.1093/hmg/7.1.85.
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. To elucidate the biosynthesis and localization of the CLN3 protein, we expressed CLN3 cDNA in COS-1 and HeLa cell lines. In vitro translation, immunoprecipitation and Western blotting analyses detected an approximately 43 kDa polypeptide. Pulse-chase experiments indicated that the CLN3 protein is synthesized as an N -glycosylated single-chain polypeptide, which was not detected in growth medium. Confocal immunofluorescence microscopy revealed that the CLN3 protein is localized to the lysosomal compartment. These results provide evidence that Batten disease can be classified as a member of lysosomal diseases.
巴顿病（青少年型神经元蜡样脂褐质沉积症，JNCL）是儿童期最常见的神经退行性疾病，由最近鉴定出的位于16号染色体p11.2 - 12.1区域的基因（CLN3）突变引起。为了阐明CLN3蛋白的生物合成和定位，我们在COS - 1和HeLa细胞系中表达了CLN3 cDNA。体外翻译、免疫沉淀和蛋白质印迹分析检测到一条约43 kDa的多肽。脉冲追踪实验表明，CLN3蛋白以N - 糖基化单链多肽的形式合成，在生长培养基中未检测到。共聚焦免疫荧光显微镜显示，CLN3蛋白定位于溶酶体区室。这些结果提供了证据，表明巴顿病可归类为溶酶体疾病的一种。
