Department of Neuroscience, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.
University of Texas Southwestern Medical Center, Dallas, TX, 75235, USA.
Neuropsychopharmacology. 2023 Jun;48(7):1000-1010. doi: 10.1038/s41386-022-01502-2. Epub 2022 Nov 14.
Bipolar disorder (BD) is a highly heritable mood disorder with intermittent episodes of mania and depression. Lithium is the first-in-line medication to treat BD, but it is only effective in a subset of individuals. Large-scale human genomic studies have repeatedly linked the ANK3 gene (encoding ankyrin-G, AnkG) to BD. Ank3 knockout mouse models mimic BD behavioral features and respond positively to lithium treatment. We investigated cellular phenotypes associated with BD, including dendritic arborization of pyramidal neurons and spine morphology in two models: (1) a conditional knockout mouse model which disrupts Ank3 expression in adult forebrain pyramidal neurons, and (2) an AnkG knockdown model in cortical neuron cultures. We observed a decrease in dendrite complexity and a reduction of dendritic spine number in both models, reminiscent of reports in BD. We showed that lithium treatment corrected dendrite and spine deficits in vitro and in vivo. We targeted two signaling pathways known to be affected by lithium using a highly selective GSK3β inhibitor (CHIR99021) and an adenylate cyclase activator (forskolin). In our cortical neuron culture model, CHIR99021 rescues the spine morphology defects caused by AnkG knockdown, whereas forskolin rescued the dendrite complexity deficit. Interestingly, a synergistic action of both drugs was required to rescue dendrite and spine density defects in AnkG knockdown neurons. Altogether, our results suggest that dendritic abnormalities observed in loss of function ANK3 variants and BD patients may be rescued by lithium treatment. Additionally, drugs selectively targeting GSK3β and cAMP pathways could be beneficial in BD.
双相情感障碍(BD)是一种具有间歇性躁狂和抑郁发作的高度遗传性情绪障碍。锂是治疗 BD 的一线药物,但仅对一部分人有效。大规模的人类基因组研究反复将 ANK3 基因(编码锚蛋白 G,AnkG)与 BD 联系起来。ANK3 敲除小鼠模型模拟了 BD 的行为特征,并对锂治疗有积极反应。我们研究了与 BD 相关的细胞表型,包括两个模型中的锥体神经元的树突分支和棘突形态:(1)一种条件性敲除小鼠模型,该模型破坏成年前脑锥体神经元中的 Ank3 表达,以及(2)皮质神经元培养中的 AnkG 敲低模型。我们观察到两种模型中的树突复杂性降低和棘突数量减少,这与 BD 中的报道相似。我们表明,锂处理可纠正体外和体内的树突和棘突缺陷。我们使用高度选择性的 GSK3β 抑制剂(CHIR99021)和腺苷酸环化酶激活剂(forskolin)靶向两种已知受锂影响的信号通路。在我们的皮质神经元培养模型中,CHIR99021 可挽救由 AnkG 敲低引起的棘突形态缺陷,而 forskolin 可挽救树突复杂性缺陷。有趣的是,需要两种药物的协同作用才能挽救 AnkG 敲低神经元中的树突和棘突密度缺陷。总的来说,我们的结果表明,在功能丧失的 ANK3 变体和 BD 患者中观察到的树突异常可能通过锂治疗得到挽救。此外,靶向 GSK3β 和 cAMP 通路的药物可能对 BD 有益。