Division of Pediatric Nephrology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada,
Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Nephron. 2021;145(6):717-720. doi: 10.1159/000518173. Epub 2021 Aug 19.
Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg2+) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essential for brain function and development. Both channels are also localized in renal and intestinal epithelia and are crucial for Mg2+(re)absorption. Cyclin M2 (CNNM2) is located on the basolateral side of the distal convoluted tubule. In addition, it plays a role in the maintenance of plasma Mg2+ levels along with TRPM6, which is present at the apical level. The CNNM2 gene is crucial for renal magnesium handling, brain development, and neurological functioning. Here, we identified a novel mutation in the CNNM2 gene causing a cognitive delay in a girl with hypomagnesemia. We suggest testing for CNNM2 mutation in patients with neurological impairment and hypomagnesemia.
神经紊乱，包括癫痫、偏头痛、抑郁和智力障碍，常与低镁血症相关。具体而言，镁（Mg2+）通道瞬时受体电位 melastatin（TRPM）6 和 TRPM7 对大脑功能和发育至关重要。这两个通道也存在于肾和肠上皮细胞中，对 Mg2+（再）吸收至关重要。细胞周期蛋白 M2（CNNM2）位于远曲小管的基底外侧。此外，它与位于顶端的 TRPM6 一起，在维持血浆 Mg2+水平方面发挥作用。CNNM2 基因对肾脏镁处理、大脑发育和神经功能至关重要。在这里，我们在一名患有低镁血症的女孩中发现了 CNNM2 基因的一个新突变，导致其认知延迟。我们建议对有神经损伤和低镁血症的患者进行 CNNM2 突变检测。
