据7月2日的《科学》杂志（Science）报道说，一项在小鼠中的研究披露，在新生儿宝宝中的伴随某种特别形式的糖尿病的肌无力，其本原是神经元性的，这一发现可能会给患者带来更为安全的疗法。 在新生儿中，iDEND是一种特别类型的糖尿病，它常常伴随有虚弱、松弛的肌肉以及发育上的延缓。 这种情况是由KATP通道的突变所引起的，KATP通道是细胞膜上的一种可调节钾及激素分泌（诸如从胰腺分泌胰岛素）的孔隙。
通过研究仅在其肌肉或其神经上表达突变的KATP基因的小鼠，Rebecca Clark及其同僚发现，在iDEND中的运动损害源自于在中枢神经系统（而非肌肉）中的该通道的错误激活。
罹患iDEND的病人常常接受磺脲的治疗，这是一种可阻断脑中及肌肉中KATP通道的药物，而这些药物可对心肌造成不良反应。 这些新的发现提示，对脑中KATP通道具有更大特异性的药物可能会是治疗的一种更为安全的选择。
推荐原文出处：
Science DOI: 10.1126/science.1186146
Muscle Dysfunction Caused by a KATP Channel Mutation in Neonatal Diabetes Is Neuronal in Origin
Rebecca H. Clark,1 James S. McTaggart,1,* Richard Webster,2,* Roope Mannikko,1,* Michaela Iberl,1 Xiuli Sim,1 Patrik Rorsman,3 Maike Glitsch,1 David Beeson,2 Frances M. Ashcroft1,
Gain-of-function mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the KATP channel, cause neonatal diabetes. Many patients also suffer from hypotonia (weak and flaccid muscles) and balance problems. While the diabetes arises from suppressed insulin secretion by overactive KATP channels in pancreatic β cells, the source of the motor phenotype is unknown. Using mice carrying a human Kir6.2 mutation (V59M) targeted to either muscle or nerve, we show that analogous motor impairments originate in the central nervous system rather than in muscle or peripheral nerves. We also identify locomotor hyperactivity as a feature of KATP channel overactivity. These findings suggest that drugs targeted against neuronal, rather than muscle, KATP channels are needed to treat the motor deficits and that such drugs require high blood-brain barrier permeability.
1 Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford, OX1 3PT, UK.
2 Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
3 Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, Oxford OX3 7LJ, UK.
