Honey N K, Mueller O T, Little L E, Miller A L, Shows T B
Proc Natl Acad Sci U S A. 1982 Dec;79(23):7420-4. doi: 10.1073/pnas.79.23.7420.
Mucolipidosis III (ML III), or pseudo-Hurler polydystrophy, is an inherited childhood disorder characterized biochemically by low activities and abnormal electrophoretic patterns of multiple lysosomal enzymes in fibroblasts. The primary deficiency of ML III has been proposed to be in UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. However, variation in this enzyme and in other biochemical properties of different ML III lines has been observed. Therefore, we investigated genetic heterogeneity within the disorder by complementation analysis. Heterokaryon cell fractions were generated by fusing together ML III fibroblast lines. When pairs of cells complemented, correction of lysosomal enzyme activities and electrophoretic patterns was observed. Twelve fibroblast lines from 10 sibships were analyzed and three distinct complementation groups were characterized. One complementation group represents the classical ML III disorder. A single cell line identifies a second complementation group. The cell lines comprising a third complementation group have a number of biochemical characteristics different from classical ML III and may represent a genetically distinct disorder.
粘脂贮积症III型（ML III），即假性胡尔勒氏多营养不良症，是一种遗传性儿童疾病，其生化特征为成纤维细胞中多种溶酶体酶活性降低以及电泳图谱异常。ML III的主要缺陷被认为是UDP-N-乙酰葡糖胺：溶酶体酶N-乙酰葡糖胺-1-磷酸转移酶缺乏。然而，已观察到该酶以及不同ML III细胞系的其他生化特性存在差异。因此，我们通过互补分析研究了该疾病的遗传异质性。通过将ML III成纤维细胞系融合在一起产生异核体细胞组分。当成对的细胞互补时，可观察到溶酶体酶活性和电泳图谱的校正。分析了来自10个同胞家族的12个成纤维细胞系，并确定了三个不同的互补组。一个互补组代表经典的ML III疾病。一个单一的细胞系确定了第二个互补组。构成第三个互补组的细胞系具有许多不同于经典ML III的生化特征，可能代表一种遗传上不同的疾病。
