Research progress on transient receptor potential melastatin 2 channel in nervous system diseases / 浙江大学学报·医学版

Transient receptor potential M2 (TRPM2) ion channel is a non-selective cationic channel that can permeate calcium ions, and plays an important role in neuroinflammation, ischemic reperfusion brain injury, neurodegenerative disease, neuropathic pain, epilepsy and other neurological diseases. In ischemic reperfusion brain injury, TRPM2 mediates neuronal death by modulating the different subunits of glutamate N-methyl-D-aspartic acid receptor in response to calcium/zinc signal. In Alzheimer's disease, TRPM2 is activated by reactive oxygen species generated by β-amyloid peptide to form a malignant positive feedback loop that induces neuronal death and is involved in the pathological process of glial cells by promoting inflammatory response and oxidative stress. In epilepsy, the TRPM2-knockout alleviates epilepsy induced neuronal degeneration by inhibiting autophagy and apoptosis related proteins. The roles of TRPM2 channel in the pathogenesis of various central nervous system diseases and its potential drug development and clinical application prospects are summarized in this review.

A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.

An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.