Katz M L, Rodrigues M
Department of Ophthalmology, University of Missouri School of Medicine, Columbia 65212.
Am J Pathol. 1991 Feb;138(2):323-32.
Juvenile ceroid lipofuscinosis, or Batten disease, is a hereditary disorder characterized by progressive visual loss, seizures, cognitive and psychomotor deterioration, and early death, usually between 15 and 35 years of age. Individuals with this disease have massive deposits of autofluorescent inclusion bodies in cells of most tissues. The accumulation of these intracellular deposits suggests that juvenile ceroid-lipofuscinosis is a storage disease resulting from the inability of cells to metabolize some normal cellular constituent. It has been reported that the storage material is largely protein, much of which is a specific mitochondrial protein that apparently is not properly metabolized in subjects with Batten disease. The storage bodies were partially purified from the retinas of two siblings who died as a result of juvenile ceroid lipofuscinosis, as well as from the cerebral cortex of an unrelated individual with this disorder. Chromatographic analysis of storage body protein acid hydrolysates indicated that they contained a large amount of the modified amino acid epsilon-N-trimethyllysine. The abundance of this amino acid in the storage protein suggests that the disease may result from excessive methylation or from a failure to demethylate intermediate forms of the stored proteins. Acid hydrolysis also solubilized a fluorescent component from the retinal storage material, suggesting that the stored protein has a bound fluorescent adduct.
青少年蜡样脂褐质沉积症，即巴滕病，是一种遗传性疾病，其特征为进行性视力丧失、癫痫发作、认知和精神运动功能衰退，并通常在15至35岁之间早逝。患有这种疾病的个体在大多数组织的细胞中都有大量自发荧光包涵体沉积。这些细胞内沉积物的积累表明青少年蜡样脂褐质沉积症是一种储存疾病，是由于细胞无法代谢某些正常细胞成分所致。据报道，储存物质主要是蛋白质，其中大部分是一种特定的线粒体蛋白质，在患有巴滕病的患者中显然没有得到正常代谢。从两名因青少年蜡样脂褐质沉积症死亡的兄弟姐妹的视网膜以及一名患有该疾病的无关个体的大脑皮层中部分纯化了储存体。对储存体蛋白质酸水解产物的色谱分析表明，它们含有大量修饰氨基酸ε-N-三甲基赖氨酸。这种氨基酸在储存蛋白质中的大量存在表明，该疾病可能是由于过度甲基化或储存蛋白质中间形式去甲基化失败所致。酸水解还使视网膜储存物质中的一种荧光成分溶解，表明储存的蛋白质有一个结合的荧光加合物。
