Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing.

Journal of Neurogenetics
Yue JiangXiao-Ping Wang

Abstract

Migraine without aura (MWO) is the most common among migraine group, and is mainly associated with genetic, physical and chemical factors, and hormonal changes. We aimed to identify novel non-synonymous mutations predisposing to the susceptibility to MWO in a Chinese sample using exome sequencing. Four patients with MWO from a family and four non-migraine subjects unrelated with these patients were genotyped using whole-exome sequencing. Bioinformatics analysis was used to screen possible susceptibility gene mutations, which were then verified by PCR. In four patients with MWO, six novel rare non-synonymous mutations were observed, including EDA2R (G170A), UBE2NL (T266G), GBP2 (A907G), EMR1 (C264G), CLCNKB (A1225G), and ARHGAP28 (C413G). It is worth stressing that GBP2 (A907G) was absent in any control subject. Multiple genes predispose to the susceptibility to MWO. ARHGAP28-, EMR1-, and GBP2-encoded proteins may affect angiokinesis, which supports vasogenic theory for the etiological hypothesis of this disease. CLCNKB-encoded protein may affect cell membrane potential, which is consistent with the cortical spreading depression theory. UBE2NL-encoded protein may regulate cellular responses to 5-hydroxytryptamine, which is in ac...Continue Reading

References

Dec 31, 1997·Neurology·K GardnerE P Hoffman
Apr 18, 1998·Human Molecular Genetics·D R NyholtL R Griffiths
Aug 15, 2000·Annual Review of Biophysics and Biomolecular Structure·M MadukeJ A Mindell
Mar 10, 2001·Nature·R SachidanandamUNKNOWN International SNP Map Working Group
Apr 12, 2001·Cephalalgia : an International Journal of Headache·N GaleottiA Bartolini
Aug 30, 2001·Trends in Genetics : TIG·D E Reich, E S Lander
Oct 29, 2005·Nature·UNKNOWN International HapMap Consortium
Dec 20, 2005·Neuroreport·Agustín OterinoPedro Muñoz
May 8, 2007·Trends in Pharmacological Sciences·Hiroaki Shimokawa, Mamunur Rashid
Sep 8, 2007·European Journal of Immunology·Jörg HamannMark J Kwakkenbos
Oct 19, 2007·Nature·UNKNOWN International HapMap ConsortiumJohn Stewart
Feb 22, 2008·Medical Hypotheses·Xiao-Ping WangYong-Bo Zhao
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Nov 17, 2009·Nature Genetics·Sarah B NgMichael J Bamshad
Apr 24, 2010·Headache·Thomas WieserKathy L Gardner
May 27, 2010·Molecular Cancer Research : MCR·Chizu TanikawaKoichi Matsuda
Nov 3, 2010·Cephalalgia : an International Journal of Headache·G DemarquayP Ryvlin
May 31, 2011·American Journal of Physiology. Heart and Circulatory Physiology·Kimio SatohHiroaki Shimokawa
Feb 22, 2012·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Wanli DongJianqiang Ni
Dec 17, 2014·Lancet Neurology·Michel D FerrariArn M J M van den Maagdenberg
Dec 17, 2014·Neurogenetics·A M PersicoV Guidetti
Feb 11, 2015·Cephalalgia : an International Journal of Headache·Ann-Louise EsserlindJes Olesen

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Citations

Jul 6, 2016·Frontiers in Cellular Neuroscience·Simona PellacaniFilippo M Santorelli
Nov 7, 2017·Journal of Neurogenetics·Cassie L AlburyAstrid J Rodriguez-Acevedo
Apr 3, 2019·International Journal of Molecular Sciences·Sadig Niftullayev, Nathalie Lamarche-Vane
May 24, 2019·Nature·Jason FlannickMichael Boehnke
Mar 4, 2017·The Journal of Headache and Pain·Rikke Dyhr HansenJes Olesen

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