Maury C P, Haltia M, Palo J
J Neurol Sci. 1981 May;50(2):291-8. doi: 10.1016/0022-510x(81)90174-x.
We have studied the regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria, a condition characterized by inherited deficiency of lysosomal N-aspartyl-beta-N-acetylglucosamine amidohydrolase. Gaschromatographic measurements of the main accumulating glycoprotein-derived metabolite, N-acetylglucosaminyl-asparagine (GlcNAc-Asn), in 12 defined cerebral areas showed that GlcNAc-Asn is rather evenly distributed in the brain. The mean concentrations ranged from 0.454 mg/g wet tissue (corpus callosum) to 0.0610 mg/g (pons). The GlcNAc-Asn concentrations tended to be higher in grey matter areas than in white matter areas. GlcNAc-Asn was identified in the isolated neuronal fraction, but not in the myelin fraction, by mass-fragmentographic techniques. Electron-microscopic reexamination of a brain biopsy specimen revealed, in addition to the abundant presence of storage lysosomes in the neuronal perikarya, numerous cytoplasmic inclusions in brain capillary endothelial cells and pericytes as well as in occasional macrophages. The results indicate that the glycoasparagine storage material is not limited to expected cortical areas in aspartylglycosaminuria, but is distributed in a rather constant fashion in all cerebral grey and white matter areas studied.
我们研究了天冬氨酰葡糖胺尿症患者大脑中糖天冬酰胺储存物质的区域分布情况。天冬氨酰葡糖胺尿症是一种由溶酶体N - 天冬氨酰 - β - N - 乙酰葡糖胺酰胺水解酶遗传性缺乏所导致的病症。通过气相色谱法对12个特定脑区中主要蓄积的糖蛋白衍生代谢物N - 乙酰葡糖胺基 - 天冬酰胺（GlcNAc - Asn）进行测量，结果显示GlcNAc - Asn在大脑中分布较为均匀。其平均浓度范围为0.454毫克/克湿组织（胼胝体）至0.0610毫克/克（脑桥）。灰质区域的GlcNAc - Asn浓度往往高于白质区域。通过质量碎片色谱技术在分离出的神经元组分中鉴定出了GlcNAc - Asn，但在髓鞘组分中未鉴定出。对一份脑活检标本进行电子显微镜复查发现，除了神经元胞体中大量存在储存溶酶体外，脑毛细血管内皮细胞、周细胞以及偶尔的巨噬细胞中也存在大量细胞质内含物。结果表明，在天冬氨酰葡糖胺尿症中，糖天冬酰胺储存物质并不局限于预期的皮质区域，而是以相当恒定的方式分布于所有研究的脑灰质和白质区域。
