TRPC6 gene variants and neuropsychiatric lupus

Giuseppe A. Ramirez, Chiara Lanzani, Enrica P. Bozzolo, Lorena Citterio, Laura Zagato, Nunzia Casamassima, Valentina Canti, Maria Grazia Sabbadini, Patrizia Rovere-Querini, Paolo Manunta, Angelo A. Manfredi

Research output: Contribution to journalArticle

Abstract

Neuropsychiatric manifestations of systemic lupus erythematosus (NPSLE) influence patients' quality of life and their survival. Little is known about the pathophysiological bases of NPSLE and accordingly there are no specific therapeutic agents to be employed in this setting. Genetic research in systemic lupus erythematosus (SLE) is rapidly evolving as a tool to find clues about the pathogenic determinants of the disease and of its manifestations. Here, we describe the association of a single nucleotide polymorphic variant of the transient receptor potential cation channel, subfamily C, member 6 (TRPC6) gene with protection from the development of NPSLE in a cohort of 106 patients with SLE. TRPC6 is involved in the regulation of N-methyl-D-aspartate (NMDA) receptor signalling, a major player in post-ischemic neuronal injury and in the pathogenesis of NPSLE. TRPC6 genetic variants are promising candidate predictors of nervous system involvement in SLE, whereas the TRPC6 pathway might constitute a potential novel therapeutic target.

Original languageEnglish
Pages (from-to)21-24
Number of pages4
JournalJournal of Neuroimmunology
Volume288
DOIs
Publication statusPublished - Nov 15 2015

Keywords

  • Genetics
  • Lupus
  • Neuropsychiatric involvement
  • TRPC6

ASJC Scopus subject areas

  • Immunology
  • Clinical Neurology
  • Immunology and Allergy
  • Neurology

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