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TRPC6 gene variants and neuropsychiatric lupus.

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.

journal_name

J Neuroimmunol

journal_title

Journal of neuroimmunology

authors

Ramirez GA,Lanzani C,Bozzolo EP,Citterio L,Zagato L,Casamassima N,Canti V,Sabbadini MG,Rovere-Querini P,Manunta P,Manfredi AA

doi

10.1016/j.jneuroim.2015.08.015

subject

Has Abstract

pub_date

2015-11-15 00:00:00

pages

21-4

eissn

0165-5728

issn

1872-8421

pii

S0165-5728(15)30031-X

journal_volume

288

pub_type

杂志文章

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