脑代谢性疾病中染色质旁和染色质间颗粒的研究

Perichromatin Granules and Interchromatin Granules in Neurons of Metabolic Diseases in Central Nervous System

目的:探讨中枢神经系统代谢性疾病的神经细胞核中染色质旁颗粒和染色质间颗粒增多的意义。方法:对12例诊断为中枢神经系统代谢性疾病患者的脑活检标本行回顾性电镜观察,并与正常脑组织的超微结构进行比较。结果:与对照组比较,12例脑代谢性疾病患者标本的神经细胞核内均可见数量繁多的染色质旁颗粒和染色质间颗粒,其中染色质旁颗粒多位于染色质周边,靠近核孔;而染色质间颗粒则位于染色质之间,靠近核仁。结论:中枢神经系统代谢性疾病的神经元中染色质旁颗粒和染色质间颗粒的数量增多,可能有助于诊断,其发生机制可能与基因突变有关。

Objective: To probe into the significance of an increase in the number of perichromatin granules(PG) and interchromatin granules (IG) in neurons of metabolic diseases in central nervous system. Method: The brain biopsy specimens of 12 patients which was formerly diagnosed as metabolic diseases in central nervous system were re-examined under electron microscopy retrospectively. They were compared with mormal neurons of brain tissues. Results: Prominent accumulation of PG and IG was observed in neuronal nuclei of 12 specimens, with PG lying on the borders of chro-matin areas in the neighbourhood ofmuclear pores and IG occuring as clusters in the nuclear matrix adjacent to nucleo-lus. While no PG or IG was detected in neuronal nuclei of control group. Conclusion: There is an increase in the number of PG and IG in neuronal nuclei of metabolic diseases in central nervous system, which may be helpful to the diagnosis of metabolic diseases in central nervous system. The mechanism of an increase in PG and IG maybe related to the gene mutation.