The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.

ABSTRACT: Transient Receptor Potential Melastatin 3 (TRPM3) is a Ca²⁺ permeable nonselective cation channel, activated by heat and chemical agonists, such as the endogenous neuro-steroid Pregnenolone Sulfate (PregS) and the chemical compound CIM0216. TRPM3 is expressed in peripheral sensory neurons of the dorsal root ganglia (DRG), and its role in noxious heat sensation in mice is well established. TRPM3 is also expressed in a number of other tissues, including the brain, but its role there has been largely unexplored. Recent reports showed that two mutations in TRPM3 are associated with a developmental and epileptic encephalopathy, pointing to an important role of TRPM3 in the human brain. Subsequent reports found that the two disease-associated mutations increased basal channel activity

SUBMITTER: Zhao S 

PROVIDER: S-EPMC8057083 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature