Wenk G L, Hauss-Wegrzyniak B
Arizona Research Laboratories, Division of Neural Systems, Memory and Aging, University of Arizona, Tucson 85724-5115, USA.
Neuropediatrics. 1999 Jun;30(3):125-9. doi: 10.1055/s-2007-973476.
Rett syndrome (RS) is a neurodevelopmental disorder that is predominant in females and is associated with cortical atrophy, stereotyped hand movements and severe mental deficiency. Previous studies have demonstrated a significant decline in number of choline acetyltransferase (ChAT)-containing neurons throughout the forebrain of RS girls. The loss of these ChAT-positive cells may be caused by a lack of nerve growth factor (NGF). In the current study, cortical levels of NGF were normal in RS girls as compared to age-and sex-matched controls. The number of neurons within the basal forebrain that express the 75 kDa (p75) low-affinity receptor for NGF was unchanged. In contrast, the number of ChAT-positive neurons was significantly decreased. The results suggest that normal amounts of NGF are available for binding to the p75 receptor and for retrograde transport to forebrain cholinergic cells, however, these neurons do not respond by producing the ChAT protein that is necessary for the production of the neurotransmitter acetylcholine.
瑞特综合征（RS）是一种神经发育障碍疾病，主要发生于女性，与皮质萎缩、刻板手部动作及严重智力缺陷有关。先前的研究表明，瑞特综合征女童整个前脑内含有胆碱乙酰转移酶（ChAT）的神经元数量显著减少。这些ChAT阳性细胞的丧失可能是由于缺乏神经生长因子（NGF）所致。在本研究中，与年龄和性别匹配的对照组相比，瑞特综合征女童的皮质NGF水平正常。前脑基底部表达NGF 75 kDa（p75）低亲和力受体的神经元数量未发生变化。相比之下，ChAT阳性神经元数量显著减少。结果表明，正常量的NGF可用于与p75受体结合并逆向运输至前脑胆碱能细胞，然而，这些神经元并未通过产生神经递质乙酰胆碱所需的ChAT蛋白做出反应。
