I am a
Home I AM A Search Login

Papers of the Week

Papers: 14 Jan 2023 - 20 Jan 2023

Human Studies

2023 Jan 14

J Headache Pain



MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response.


Wang A, Song Z, Zhang X, Xiao LF, Feng Y, Qi C, Zhang G, Bai J, Liu Y, Sun T, Meng F, Wang F
J Headache Pain. 2023 Jan 14; 24(1):4.
PMID: 36641423.


While new genetic analysis methods are widely used in the clinic, few researchers have focused on trigeminal neuralgia (TN) with familial clustering (≥ 2 TN patients in one kindred family). Previous literature suggests that familial trigeminal neuralgia (FTN) may be associated with inherited genetic factors. To date, few next-generation sequencing studies have been reported for FTN. This study investigated the pathogenic mechanism of FTN by using whole-exome sequencing (WES) technology, which may enhance our understanding of human TN pathophysiology.  METHOD: We performed WES for 7 probands from families of FTN. Sanger sequencing was performed for two control groups (FTN family members group and nonfamilial TN subject group) to potentially identify new FTN-related gene mutations. In families where FTN probands carried potentially pathogenic gene mutations, the ribonucleic acid (RNA) of FTN probands and related family members, as well as nonfamilial TN patients were analysed by RNA sequencing (RNA-seq) to confirm differential gene expression.