唐氏综合征中的突触素和突触结合蛋白-1受阿尔茨海默病的影响不同。
Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease.
作者信息
Martin Sarah B, Dowling Amy L S, Lianekhammy Joann, Lott Ira T, Doran Eric, Murphy M Paul, Beckett Tina L, Schmitt Frederick A, Head Elizabeth
机构信息
Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
Department of Physiology, University of Kentucky, Lexington, KY, USA Department of Pediatrics and Neurology, School of Medicine, University of California-Irvine (UCI), Orange, CA, USA.
出版信息
J Alzheimers Dis. 2014;42(3):767-75. doi: 10.3233/JAD-140795.
Adults with Down syndrome (DS) develop Alzheimer's disease (AD) neuropathology by 40 years of age. Synaptophysin (SYN) consistently declines with age and is further reduced with sporadic AD. Thus, we hypothesized that SYN would be reduced in DS with AD. The gene for synaptojanin-1 (SYNJ1), involved in synaptic vesicle recycling, is on chromosome 21. We measured SYN and SYNJ1 in an autopsy series of 39 cases with DS and 28 without DS, along with 7 sporadic AD cases. SYN was significantly lower in DSAD compared with DS alone and similar to sporadic AD. Reduced SYN is associated with AD neuropathology and with Aβ levels in DS, as is seen in sporadic AD. SYNJ1 was significantly higher in DS and correlated with several measures of Aβ. SYNJ1 was higher in DSAD and significantly higher than SYNJ1 in sporadic AD. Although significantly higher in DS, SYNJ1 is further increased with AD neuropathology suggesting interesting differences in a synapse-associated protein that is overexpressed in trisomy 21.
患有唐氏综合征（DS）的成年人在40岁时会出现阿尔茨海默病（AD）神经病理学特征。突触素（SYN）会随着年龄的增长持续下降，在散发性AD中更是进一步降低。因此，我们推测在患有AD的DS患者中SYN会减少。参与突触小泡循环的突触素-1（SYNJ1）基因位于21号染色体上。我们在一个尸检系列中检测了39例DS患者、28例非DS患者以及7例散发性AD患者的SYN和SYNJ1。与单纯DS患者相比，DS伴AD患者的SYN显著降低，且与散发性AD患者相似。SYN降低与AD神经病理学以及DS患者的淀粉样β蛋白（Aβ）水平相关，这与散发性AD的情况一致。DS患者的SYNJ1显著升高，且与多种Aβ指标相关。DS伴AD患者的SYNJ1更高，且显著高于散发性AD患者的SYNJ1。尽管DS患者的SYNJ1显著升高，但随着AD神经病理学的发展其进一步升高，这表明在21三体综合征中过度表达的一种突触相关蛋白存在有趣的差异。
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