Early changes in gene expression in two models of Batten disease
Early changes in gene expression in two models of Batten disease
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DOI：
10.1016/s0014-5793(03)00162-5
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发表时间：
2003-03-13
期刊：
影响因子：
3.5
通讯作者：
Pearce, DA
中科院分区：
文献类型：
--
作者：
Elshatory, Y;Brooks, AI;Pearce, DA
婴儿和青少年神经元蜡样质脂褐质沉积症（NCL）是儿童期进行性神经退行性疾病，具有不同的临床发病年龄，但具有相似的病理结果。婴儿和青少年NCL分别由于CLN 1和CLN 3基因突变而以常染色体隐性方式遗传。最近开发的Cln 1-和Cln 3-敲除小鼠模型在病理学上与相应的人类疾病有相似之处。使用寡核苷酸阵列，我们确定了10周龄的Cln 1和Cln 3基因敲除小鼠的大脑中的基因表达的可重复的变化相比，野生型对照，并确认了几个同源蛋白质的水平的变化，通过免疫印迹。尽管在病理学上有相似之处，但这两种突变影响不同的、非重叠的基因组的表达。这些变化的可能意义和NCL疾病的病理机制进行了讨论。(C)2003年由Elsevier Science B. V.代表欧洲生物化学学会联合会出版。
Infantile and juvenile neuronal ceroid lipofuscinosis (NCLs) are progressive neurodegenerative disorders of childhood with distinct ages of clinical onset, but with a similar pathological outcome. Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively. Recently developed Cln1- and Cln3-knockout mouse models share similarities in pathology with the respective human disease. Using oligonucleotide arrays we identified reproducible changes in gene expression in the brains of both 10-week-old Cln1- and Cln3-knockout mice as compared to wild-type controls, and confirmed changes in levels of several of the cognate proteins by immunoblotting. Despite the similarities in pathology, the two mutations affect the expression of different, non-overlapping sets of genes. The possible significance of these changes and the pathological mechanisms underlying NCL diseases are discussed. (C) 2003 Published by Elsevier Science B.V. on behalf of the Federation of European Biochemical Societies.