nature.com

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 - Nature Genetics

  • ️Casari, Giorgio
  • ️Tue Jan 21 2003

References

  1. Stewart, W.F., Lipton, R.B., Celentano, D.D. & Reed, M.L. Prevalence of migraine headache in the United States. Relation to age, income, race, and other sociodemographic factors. J. Am. Med. Assoc. 267, 64–69 (1992).

    Article  CAS  Google Scholar 

  2. Rasmussen, B.K. & Olesen, J. Symptomatic and nonsymptomatic headaches in a general population. Neurology 42, 1225–1231 (1992).

    Article  CAS  Google Scholar 

  3. IHS. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Headache Classification Committee of the International Headache Society. Cephalalgia 8, 1–96 (1988).

  4. Russell, M.B. & Olesen, J. The genetics of migraine without aura and migraine with aura. Cephalalgia 13, 245–248 (1993).

    Article  CAS  Google Scholar 

  5. Ulrich, V., Gervil, M., Kyvik, K.O., Olesen, J. & Russell, M.B. Evidence of a genetic factor in migraine with aura: a population-based Danish twin study. Ann. Neurol. 45, 242–246 (1999).

    Article  CAS  Google Scholar 

  6. Russell, M.B., Ulrich, V., Gervil, M. & Olesen, J. Migraine without aura and migraine with aura are distinct disorders. A population-based twin survey. Headache 42, 332–336 (2002).

    Article  Google Scholar 

  7. Blau, J.N. & Whitty, C. Familial hemiplegic migraine. Lancet 2, 1115–1116 (1955).

    Article  Google Scholar 

  8. Fitzsimons, R.B. & Wolfenden, W.H. Migraine coma. Meningitic migraine with cerebral oedema associated with a new form of autosomal dominant cerebellar ataxia. Brain 108, 555–577 (1985).

    Article  Google Scholar 

  9. Ophoff, R.A. et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87, 543–552 (1996).

    Article  CAS  Google Scholar 

  10. Ducros, A. et al. Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity. Ann. Neurol. 42, 885–890 (1997).

    Article  CAS  Google Scholar 

  11. Gardner, K., Barmada, M.M., Ptacek, L.J. & Hoffman, E.P. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 49, 1231–1238 (1997).

    Article  CAS  Google Scholar 

  12. Marconi, R. et al. Familial hemiplegic migraine type 2 is linked to 0.9 Mb region on chromosome 1q23. Ann. Neurol. (in the press).

  13. Hu, Y.K. & Kaplan, J.H. Site-directed chemical labeling of extracellular loops in a membrane protein. The topology of the Na,K-ATPase α-subunit. J. Biol. Chem. 275, 19185–19191 (2000).

    Article  CAS  Google Scholar 

  14. Price, E.M., Rice, D.A. & Lingrel, J.B. Structure–function studies of Na,K-ATPase. Site-directed mutagenesis of the border residues from the H1-H2 extracellular domain of the α subunit. J. Biol. Chem. 265, 6638–6641 (1990).

    CAS  Google Scholar 

  15. Chou, P.Y. & Fasman, G.D. Prediction of the secondary structure of proteins from their amino-acid sequence. Adv. Enzymol. Relat. Areas Mol. Biol. 47, 45–148 (1978).

    CAS  Google Scholar 

  16. Pedemonte, C.H. & Kaplan, J.H. Chemical modification as an approach to elucidation of sodium pump structure–function relations. Am. J. Physiol. 258, C1–C23 (1990).

    Article  CAS  Google Scholar 

  17. Lemas, M.V., Hamrick, M., Takeyasu, K. & Fambrough, D.M. 26 amino acids of an extracellular domain of the Na,K-ATPase α-subunit are sufficient for assembly with the Na,K-ATPase β-subunit. J. Biol. Chem. 269, 8255–8259 (1994).

    CAS  Google Scholar 

  18. Lutsenko, S. & Kaplan, J.H. An essential role for the extracellular domain of the Na,K-ATPase β-subunit in cation occlusion. Biochemistry 32, 6737–6743 (1993).

    Article  CAS  Google Scholar 

  19. McGrail, K.M., Phillips, J.M. & Sweadner, K.J. Immunofluorescent localization of three Na,K-ATPase isozymes in the rat central nervous system: both neurons and glia can express more than one Na,K-ATPase. J. Neurosci. 11, 381–391 (1991).

    Article  CAS  Google Scholar 

  20. Juhaszova, M. & Blaustein, M.P. Na+ pump low and high ouabain affinity α subunit isoforms are differently distributed in cells. Proc. Natl. Acad. Sci. USA 94, 1800–1805 (1997).

    Article  CAS  Google Scholar 

  21. Lauritzen, M. Pathophysiology of the migraine aura. The spreading depression theory. Brain 117, 199–210 (1994).

    Article  Google Scholar 

  22. Tottene, A. et al. Familial hemiplegic migraine mutations increase Ca2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc. Natl. Acad. Sci. USA 99, 13284–13289 (2002).

    Article  CAS  Google Scholar 

  23. James, P.F. et al. Identification of a specific role for the Na,K-ATPase α2 isoform as a regulator of calcium in the heart. Mol. Cell 3, 555–563 (1999).

    Article  CAS  Google Scholar 

  24. Balestrino, M., Young, J. & Aitken, P. Block of (Na+,K+)ATPase with ouabain induces spreading depression-like depolarization in hippocampal slices. Brain Res. 838, 37–44 (1999).

    Article  CAS  Google Scholar 

  25. Leão, A.A.P. Spreading depression of activity in the cerebral cortex. J. Neurophysiol. 7, 359–390 (1944).

    Article  Google Scholar 

  26. Liu, Y., Peterson, D.A., Kimura, H. & Schubert, D. Mechanism of cellular 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) reduction. J. Neurochem. 69, 581–593 (1997).

    Article  CAS  Google Scholar 

Download references