Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
J Neurosci Res. 2012 May;90(5):999-1010. doi: 10.1002/jnr.23007. Epub 2012 Jan 18.
Overexpression of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A), encoded by a gene located in the Down syndrome (DS) critical region, is considered a major contributor to developmental abnormalities in DS. DYRK1A regulates numerous genes involved in neuronal commitment, differentiation, maturation, and apoptosis. Because alterations of neurogenesis could lead to impaired brain development and mental retardation in individuals with DS, pharmacological normalization of DYRK1A activity has been postulated as DS therapy. We tested the effect of harmine, a specific DYRK1A inhibitor, on the development of neuronal progenitor cells (NPCs) isolated from the periventricular zone of newborn mice with segmental trisomy 16 (Ts65Dn mice), a mouse model for DS that overexpresses Dyrk1A by 1.5-fold. Trisomy did not affect the ability of NPCs to expand in culture. Twenty-four hours after stimulation of migration and neuronal differentiation, NPCs showed increased expression of Dyrk1A, particularly in the trisomic cultures. After 7 days, NPCs developed into a heterogeneous population of differentiating neurons and astrocytes that expressed Dyrk1A in the nuclei. In comparison with disomic cells, NPCs with trisomy showed premature neuronal differentiation and enhanced γ-aminobutyric acid (GABA)-ergic differentiation, but astrocyte development was unchanged. Harmine prevented premature neuronal maturation of trisomic NPCs but not acceleration of GABA-ergic development. In control NPCs, harmine treatment caused altered neuronal development of NPCs, similar to that in trisomic NPCs with Dyrk1A overexpression. This study suggests that pharmacological normalization of DYRK1A activity may have a potential role in DS therapy.
双特异性酪氨酸-(Y)-磷酸化调节激酶 1A(DYRK1A)的过表达,由位于唐氏综合征(DS)关键区域的基因编码,被认为是 DS 发育异常的主要原因。DYRK1A 调节许多参与神经元承诺、分化、成熟和凋亡的基因。因为神经发生的改变可能导致 DS 个体的大脑发育受损和智力迟钝,所以已经提出了药理学上使 DYRK1A 活性正常化作为 DS 治疗的方法。我们测试了 harmine 的效果,harmine 是一种特定的 DYRK1A 抑制剂,对来自新生小鼠脑室周围区分离的神经元祖细胞(NPCs)的发育的影响,该小鼠模型具有 1.5 倍的 Dyrk1A 过表达,是一种 DS 模型。三体并不影响 NPC 在培养中扩增的能力。在刺激迁移和神经元分化 24 小时后,NPC 表现出 Dyrk1A 表达增加,特别是在三体培养物中。7 天后,NPC 发育成具有 Dyrk1A 核表达的异质分化神经元和星形胶质细胞群体。与二倍体细胞相比,具有三体的 NPC 表现出过早的神经元分化和增强的γ-氨基丁酸(GABA)能分化,但星形胶质细胞发育不变。Harmine 阻止了三体 NPC 的过早神经元成熟,但不能阻止 GABA 能分化的加速。在对照 NPC 中,harmine 处理导致 NPC 的神经元发育发生改变,类似于 Dyrk1A 过表达的三体 NPC。这项研究表明,药理学上使 DYRK1A 活性正常化可能在 DS 治疗中具有潜在作用。