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Migraine Genetics: Part II
Author(s) -
Silberstein Stephen D.,
Dodick David W.
Publication year - 2013
Publication title -
headache: the journal of head and face pain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.14
H-Index - 119
eISSN - 1526-4610
pISSN - 0017-8748
DOI - 10.1111/head.12169
Subject(s) - familial hemiplegic migraine , migraine , missense mutation , genetics , migraine with aura , gene , cortical spreading depression , mutation , biology , potassium channel , aura , medicine , endocrinology
Migraine clusters in families and is considered to be a strongly heritable disorder. Hemiplegic migraine is a rare subtype of migraine with aura that may occur as a familial or a sporadic condition. Three genes have been identified studying families with familial hemiplegic migraine ( FHM ). The first FHM gene that was identified is CACNA1A . A second gene, FHM2 , has been mapped to chromosome 1 q 21‐23. The defect is a new mutation in the α 2 subunit of the N a/ K pump ( ATP1A2 ). A third gene ( FHM3 ) has been linked to chromosome 2q24. It is due to a missense mutation in gene SCN1A ( Gln1489Lys ), which encodes an α1 subunit of a neuronal voltage‐gated N a+ channel. Genome‐wide association studies have identified many non‐coding variants associated with common diseases and traits, like migraine. These variants are concentrated in regulatory DNA marked by deoxyribonuclease I hypersensitive sites. A role has been suggested for the two‐pore domain potassium channel, TWIK ‐related spinal cord potassium channel. TWIK ‐related spinal cord potassium channel is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine.