School of Health and Sport Sciences, University of the Sunshine Coast, Locked Bag 4, Maroochydore DC, QLD 4558, Australia; Sunshine Coast Health Institute, Birtinya, QLD 4575, Australia.
Trends Mol Med. 2019 Oct;25(10):823-825. doi: 10.1016/j.molmed.2019.08.010. Epub 2019 Sep 11.
Startle disease results from mutations in genes encoding inhibitory GlyR α1 and β subunits or the presynaptic glycine transporter GlyT2. However, the most effective therapies are benzodiazepines that potentiate inhibitory GABAR function. A recent publication by Zou et al. adds further complexity by suggesting that dominant GlyR α1 mutants assemble into pre- and extrasynaptic GABARs.
Startle 病是由编码抑制性 GlyR α1 和 β 亚基或突触前甘氨酸转运体 GlyT2 的基因突变引起的。然而，最有效的治疗方法是苯二氮䓬类药物，它能增强抑制性 GABAAR 的功能。最近 Zou 等人的一篇出版物进一步增加了复杂性，表明显性 GlyR α1 突变体组装到突触前和 extrasynaptic GABAAR 中。
