FRAXA-DVI, FRAXA, Santiago, Chile.
IEB, Faculty of Science, University of Chile, Santiago, Chile.
Sci Rep. 2020 Oct 22;10(1):18058. doi: 10.1038/s41598-020-74848-6.
Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no specific drug treatment. Building upon the demonstrated therapeutic effects on spatial memory of bryostatin-1, a relatively specific activator of protein kinase C (PKC)ε, (also of PKCα) on impaired synaptic plasticity/maturation and spatial learning and memory in FXS mice, we investigated whether bryostatin-1 might affect the autistic phenotypes and other behaviors, including open field activity, activities of daily living (nesting and marble burying), at the effective therapeutic dose for spatial memory deficits. Further evaluation included other non-spatial learning and memory tasks. Interestingly, a short period of treatment (5 weeks) only produced very limited or no therapeutic effects on the autistic and cognitive phenotypes in the Fmr1 KO2 mice, while a longer treatment (13 weeks) with the same dose of bryostatin-1 effectively rescued the autistic and non-spatial learning deficit cognitive phenotypes. It is possible that longer-term treatment would result in further improvement in these fragile X phenotypes. This effect is clearly different from other treatment strategies tested to date, in that the drug shows little acute effect, but strong long-term effects. It also shows no evidence of tolerance, which has been a problem with other drug classes (mGluR5 antagonists, GABA-A and -B agonists). The results strongly suggest that, at appropriate dosing and therapeutic period, chronic bryostatin-1 may have great therapeutic value for both ASD and FXS.
脆性 X 综合征(FXS)是一种 X 连锁智力障碍,是自闭症谱系障碍(ASD)的主要单基因病因,而 ASD 目前尚无特定的药物治疗方法。在证明了 bryostatin-1 对空间记忆具有治疗作用的基础上,这种物质是一种相对特异性的蛋白激酶 C(PKC)ε激活剂(也可激活 PKCα),可改善 FXS 小鼠的突触可塑性/成熟以及空间学习和记忆障碍,我们研究了 bryostatin-1 是否可能影响自闭症表型和其他行为,包括在空间记忆缺陷的有效治疗剂量下的旷场活动、日常生活活动(筑巢和埋丸)。进一步的评估包括其他非空间学习和记忆任务。有趣的是,短期(5 周)治疗仅对 Fmr1 KO2 小鼠的自闭症和认知表型产生非常有限或没有治疗作用,而相同剂量的 bryostatin-1 进行更长时间(13 周)的治疗则有效挽救了自闭症和非空间学习缺陷认知表型。可能需要更长时间的治疗才能进一步改善这些脆性 X 表型。这种作用明显不同于迄今为止测试的其他治疗策略,因为该药物急性作用很小,但长期作用很强。它也没有出现耐受的迹象,这是其他药物类别(mGluR5 拮抗剂、GABA-A 和 -B 激动剂)存在的问题。研究结果强烈表明,在适当的剂量和治疗期内,慢性 bryostatin-1 可能对 ASD 和 FXS 均具有重要的治疗价值。