IV型黏脂贮积症由编码一种新型瞬时受体电位通道的基因突变引起。
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
作者信息
Sun M, Goldin E, Stahl S, Falardeau J L, Kennedy J C, Acierno J S, Bove C, Kaneski C R, Nagle J, Bromley M C, Colman M, Schiffmann R, Slaugenhaupt S A
机构信息
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Hum Mol Genet. 2000 Oct 12;9(17):2471-8. doi: 10.1093/hmg/9.17.2471.
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder. ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the Drosophila transient receptor potential gene family. The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed.
IV型黏脂贮积症（MLIV）是一种发育性神经退行性疾病，其特征为严重的神经和眼科异常。最近通过遗传连锁分析将MLIV基因ML4（MCOLN1）定位到19号染色体p13.2 - 13.3区域。在此我们报告一个新型瞬时受体电位阳离子通道基因的克隆，并表明该基因在患有该疾病的患者中发生了突变。ML4编码一种蛋白质，我们提议将其命名为黏脂素，它具有六个预测的跨膜结构域，是果蝇瞬时受体电位基因家族多囊蛋白II亚家族的成员。本文讨论了潜在的受体刺激阳离子通道缺陷在IV型黏脂贮积症发病机制中的作用。
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