Pisani A, Martella G, Tscherter A, Bonsi P, Sharma N, Bernardi G, Standaert D G
Clinica Neurologica, Dipartimento di Neuroscienze, Università Tor Vergata, Rome, Italy, and Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA.
Neurobiol Dis. 2006 Nov;24(2):318-25. doi: 10.1016/j.nbd.2006.07.006. Epub 2006 Aug 28.
Early-onset torsion dystonia (DYT1) is an autosomal dominant disease caused by a deletion in the gene encoding the protein torsinA. Recently, a transgenic mouse model of DYT1 has been described, expressing either the human wild-type torsinA (hWT) or mutant torsinA (hMT). We recorded the activity of striatal cholinergic interneurons of hWT, hMT, and control mice. In slice preparations, no significant differences were observed in resting membrane potential (RMP), firing activity, action potential duration or Ih current. Quinpirole, a D2-like dopamine receptor agonist, did not produce detectable effects on RMP of cholinergic interneurons in control mice and hWT mice, but in the hMT mice caused membrane depolarization and an increase in the firing rate. D2 receptor activation inhibits N-type high-voltage-activated calcium currents. We found that, in isolated interneurons from hMT mice, the quinpirole-mediated inhibition of N-type currents was significantly larger than in hWT and controls. Moreover, the N-type component was significantly over-represented in hMT mice. The altered sensitivity of N-type channels in hMT mice could account for the paradoxical excitatory effect of D2 stimulation. Our data support the existence of an imbalance between striatal dopaminergic and cholinergic signaling in DYT1 dystonia.
早发性扭转性肌张力障碍(DYT1)是一种常染色体显性疾病,由编码torsinA蛋白的基因缺失引起。最近,已描述了一种DYT1转基因小鼠模型,其表达人类野生型torsinA(hWT)或突变型torsinA(hMT)。我们记录了hWT、hMT和对照小鼠纹状体胆碱能中间神经元的活性。在脑片制备中,静息膜电位(RMP)、放电活性、动作电位持续时间或Ih电流均未观察到显著差异。喹吡罗是一种D2样多巴胺受体激动剂,对对照小鼠和hWT小鼠胆碱能中间神经元的RMP未产生可检测到的影响,但在hMT小鼠中引起膜去极化并增加放电频率。D2受体激活可抑制N型高电压激活钙电流。我们发现,在来自hMT小鼠的分离中间神经元中,喹吡罗介导的对N型电流的抑制作用显著大于hWT小鼠和对照小鼠。此外,N型成分在hMT小鼠中显著过度表达。hMT小鼠中N型通道敏感性的改变可能解释了D2刺激的反常兴奋作用。我们的数据支持DYT1肌张力障碍中纹状体多巴胺能和胆碱能信号之间存在失衡。