Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders
CACNA1A
,
ATP1A2
, and
SCN1A
can be causal. Functional studies of these mutations has shown that they can result in defective regulation of glutamatergic neurotransmission and the excitatory/inhibitory balance in the brain, which lowers the threshold for cortical spreading depression, a wave of cortical depolarization thought to be involved in headache initiation mechanisms. Other putative genes for monogenic migraine include
KCKN18
,
PRRT2
, and
CSNK1D
, which can also be involved with other disorders. There are a number of primarily vascular disorders caused by mutations in single genes, which are often accompanied by migraine symptoms. Mutations in
NOTCH3
causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebrovascular disease that leads to ischemic strokes and dementia, but in which migraine is often present, sometimes long before the onset of other symptoms. Mutations in the
TREX1
and
COL4A1
also cause vascular disorders, but often feature migraine. With respect to common polygenic migraine, genome‐wide association studies have now identified single nucleotide polymorphisms at 38 loci significantly associated with migraine risk. Functions assigned to the genes in proximity to these loci suggest that both neuronal and vascular pathways also contribute to the pathophysiology of common migraine. Further studies are required to fully understand these findings and translate them into treatment options for migraine patients.
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Rodrigo Noseda, Rami Burstein
Aristides A.P. Leão
MB Russell, L Iselius, J Olesen
Arn M. J. M. van den Maagdenberg, Tommaso Pizzorusso, Simon Kaja et al.
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Sarah Kittel-Schneider, Gara Arteaga-Henriquez · 2022
- Published
- Mar 08, 2017
- Vol/Issue
- 57(4)
- Pages
- 537-569
- License
- View
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