Mutant G Proteins and Human Disease — This week's New England Journal of Medicine (NEJM) published an editorial on G proteins written by Dr. Allen M. Spiegel, Einstein's Marilyn and Stanley M. Katz Dean. Members of the G protein family couple activation of a class of transmembrane receptors termed GPCRs to signaling pathways that regulate key cellular processes. GPCRs are activated by a diverse array of extracellular signals including hormones, neurotransmitters and photons of light. Dr. Spiegel's editorial accompanied the publication of a research paper and letter reporting that mutations that inactivate or activate a particular G protein cause hypercalcemic and hypocalcemic disorders, respectively. Previous studies had shown that these disorders can also result from mutations in the gene encoding a GPCR activated by extracellular calcium. Dr. Spiegel noted that the present work expands the list of diseases caused by mutant G proteins beyond those originally described by his and other labs. (Subscription may be required)
Posted on: Tuesday, June 25, 2013