6533b7d8fe1ef96bd126a4c4
RESEARCH PRODUCT
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Luigia AtorinoLetterio MorganteAndrea BallabioMaurizio De FuscoPaolo AridonLaura SilvestriLuca RampoldiRoberto MarconiGiorgio Casarisubject
Malemedicine.medical_specialtyAuraCell SurvivalPopulationMigraine with AuraMolecular Sequence DataDrug ResistanceBiologyHaploidyTransfectionATP1A2Internal medicineATP1A3Chlorocebus aethiopsGeneticsmedicineAnimalsHumansEnzyme InhibitorseducationOuabainFamilial hemiplegic migraineChromatography High Pressure LiquidGeneticseducation.field_of_studyBase Sequencemedicine.diseaseMigraine with auraPeptide FragmentsPedigreeEndocrinologyMigraineChromosomes Human Pair 1Case-Control StudiesCOS CellsMutationMutagenesis Site-DirectedFemaleCalcium Channelsmedicine.symptomSodium-Potassium-Exchanging ATPaseHaploinsufficiencyHeLa Cellsdescription
Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries(1,2). About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache(3). Although the mode of transmission is controversial(4), population-based and twin studies have implicated genetic factors, especially in migraine with aura(5,6). Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). Functional data indicate that the putative pathogenetic mechanism is triggered by a loss of function of a single allele of ATP1A2. This is the first report associating mutations of Na+K+ pump subunits to genetic diseases.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2003-01-01 | Nature genetics |