Suzuki Y
Tokyo Metropolitan Institute of Medical Science.
No To Hattatsu. 1995 Mar;27(2):89-95.
Recently, techniques of molecular biology have been widely applied to child neurology, and a new aspect of the pathogenesis of neurogenetic diseases has been revealed. In this article, recent results of molecular analysis in my laboratory were briefly reviewed on hereditary beta-galactosidase deficiency. After cDNA cloning, a number of gene mutations have been identified; mainly missense mutations, such as single-base substitution, duplication, insertion, and splice site mutation. A clear phenotype-genotype correlation was established for some mutations specific to the late-onset forms of the disease. Intracellular events of mutant proteins expressed by these mutant genes were heterogeneous, and expected to be closely connected to the pathogenesis of each phenotype. On the basis of these data, a unified clinical classification was proposed for GM1-gangliosidosis and Morquio B disease, together with a new concept of "beta-galactosidosis" for the diseases with beta-galactosidase gene mutations.
最近，分子生物学技术已广泛应用于儿童神经病学领域，神经遗传疾病发病机制的一个新方面得以揭示。本文简要回顾了我实验室关于遗传性β-半乳糖苷酶缺乏症分子分析的近期结果。cDNA克隆后，已鉴定出许多基因突变；主要是错义突变，如单碱基替换、重复、插入和剪接位点突变。对于该疾病晚发型的一些特定突变，已建立了明确的表型-基因型相关性。这些突变基因表达的突变蛋白的细胞内事件是异质性的，预计与每种表型的发病机制密切相关。基于这些数据，针对GM1神经节苷脂贮积症和莫尔基奥B病提出了统一的临床分类，以及针对β-半乳糖苷酶基因突变疾病的“β-半乳糖苷酶缺乏症”这一新概念。
