Walkley S U, Siegel D A, Dobrenis K
Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Neurochem Res. 1995 Nov;20(11):1287-99. doi: 10.1007/BF00992503.
GM2 ganglioside, although scarce in normal adult brain, is the predominant ganglioside accumulating in several types of lysosomal disorders, most notably Tay-Sachs disease. Pyramidal neurons of cerebral cortex in Tay-Sachs, as well as many other types of neuronal storage disorders, are known to exhibit a phenomenon believed unique to storage disorders: growth of ectopic dendrites. Recent studies have shown that a common metabolic abnormality shared by storage diseases with ectopic dendrite growth is the abnormal accumulation of GM2 ganglioside. The correlation between increased levels of GM2 and the presence of ectopic dendrites has been found in both ganglioside and nonganglioside storage disorders, the latter including sphingomyelin-cholesterol lipidosis, mucopolysaccharidosis, and alpha-mannosidosis. Quantitative HPTLC analysis has shown that increases in GM2 occur in proportion to the incidence of ectopic dendrite growth, whereas other gangliosides, including GM1, lack similar increases. Immunocytochemical studies of all nonganglioside storage diseases which exhibit ectopic dendritogenesis have revealed heightened GM2 ganglioside-immunoreactivity in the cortical pyramidal cell population, whereas nerurons in normal adult brain exhibit little or no staining for this ganglioside. Further, studies examining disease development have consistently shown that accumulation of GM2 ganglioside precedes growth of ectopic dendrites, indicating that it is not simply occurring secondary to new membrane production. These findings have prompted an examination for a similar relationship between GM2 ganglioside and dendritogenesis in cortical neurons of normal developing brain. Results show that GM2 ganglioside-immunoreactivity is consistently elevated in immature neurons during the period when they are undergoing active dendritic initiation, but this staining diminishes dramatically as the dendritic trees of these cells mature. Collectively, these studies on diseased and normal brain offer compelling evidence that GM2 ganglioside plays a pivotal role in the regulation of dendritogenesis in cortical pyramidal neurons.
GM2神经节苷脂在正常成人大脑中虽然稀少,但却是几种溶酶体疾病中积累的主要神经节苷脂,最显著的是泰-萨克斯病。泰-萨克斯病患者大脑皮质的锥体神经元以及许多其他类型的神经元贮积症,都表现出一种被认为是贮积症所特有的现象:异位树突生长。最近的研究表明,有异位树突生长的贮积病共同的代谢异常是GM2神经节苷脂的异常积累。在神经节苷脂贮积症和非神经节苷脂贮积症中都发现了GM2水平升高与异位树突的存在之间的相关性,后者包括鞘磷脂-胆固醇脂质沉积症、黏多糖贮积症和α-甘露糖苷贮积症。定量高效薄层层析分析表明,GM2的增加与异位树突生长的发生率成正比,而其他神经节苷脂,包括GM1,则没有类似的增加。对所有表现出异位树突形成的非神经节苷脂贮积病的免疫细胞化学研究表明,皮质锥体细胞群中GM2神经节苷脂免疫反应性增强,而正常成人大脑中的神经元对这种神经节苷脂几乎没有或没有染色。此外,研究疾病发展的研究一直表明,GM2神经节苷脂的积累先于异位树突的生长,这表明它并非仅仅继发于新膜的产生。这些发现促使人们研究正常发育大脑皮质神经元中GM2神经节苷脂与树突形成之间是否存在类似关系。结果表明,在未成熟神经元活跃进行树突起始的时期,GM2神经节苷脂免疫反应性持续升高,但随着这些细胞的树突树成熟,这种染色会显著减少。总的来说,这些对患病和正常大脑的研究提供了令人信服的证据,表明GM2神经节苷脂在皮质锥体神经元树突形成的调节中起关键作用。