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首页> 外文期刊>Nature >Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

机译：棕榈酰蛋白硫酯酶基因中的突变导致婴儿神经元类固醇脂褐藻病。

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摘要

Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500. These severe brain diseases are divided into three autosomal recessive subtypes, assigned to different chromosomal loci. The infantile subtype of NCL (INCL), linked to chromosome 1p32, is characterized by early visual loss and rapidly progressing mental deterioration, resulting in a flat electroencephalogram by 3 years of age; death occurs at 8 to 11 years, and characteristic storage bodies are found in brain and other tissues at autopsy. The molecular pathogenesis underlying the selective loss of neurons of neocortical origin has remained unknown. Here we report the identification, by positional candidate methods, of defects in the palmitoyl-protein thioesterase gene in all 42 Finnish INCL patients and several non-Finnish patients. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain of patients.
机译：神经元类固醇脂褐藻糖（NCL）代表儿童的一组常见进行性脑病，其全球发病率为每12,500人中有1人。这些严重的脑部疾病分为三种常染色体隐性亚型，分别属于不同的染色体基因座。 NCL（INCL）的婴儿亚型与1p32染色体相关，其特征是早期视力丧失和精神疾病迅速发展，到3岁时脑电图变得平坦。死亡发生在8至11岁，尸体解剖时在脑和其他组织中发现了特征性的存储体。新皮质起源的神经元的选择性损失的分子发病机制仍是未知的。在这里，我们报告通过定位候选方法，在所有42名芬兰INCL患者和数名非芬兰患者中棕榈酰蛋白硫酯酶基因的缺陷鉴定。最常见的突变会导致多肽在细胞内积累，并在患者的大脑中产生无法检测的酶活性。

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