Data on headache and migraine published by researchers at University of Tokyo, Department of Internal Medicine
A new study, ‘Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine,’ is now available. According to recent research published in the journal Proceedings of the National Academy of Sciences of the United States of America, “Homozygous mutations in SLC4A4, encoding the electrogenic Na(+)-HCO(3)(-) cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, ocular abnormalities, and hemiplegic migraine.”
“Genetic analysis ruled out pathological mutations in the known genes for familial hemiplegic migraine, but identified a homozygous 65-bp deletion (Delta65bp) in the C terminus of NBCe1, corresponding to the codon change S982NfsX4. Several heterozygous members of this family also presented glaucoma and migraine with or without aura. Despite the normal electrogenic activity in Xenopus oocytes, the Delta65bp mutant showed almost no transport activity due to a predominant cytosolic retention in mammalian cells. Furthermore, coexpression experiments uncovered a dominant negative effect of the mutant through hetero-oligomer formation with wild-type NBCe1. Among other pRTA pedigrees with different NBCe1 mutations, we identified four additional homozygous patients with migraine,” wrote M. Suzuki and colleagues, University of Tokyo, Department of Internal Medicine (see also Headache and Migraine).
The researchers concluded: “The immunohistological and functional analyses of these mutants demonstrate that the near total loss of NBCe1 activity in astrocytes can cause migraine potentially through dysregulation of synaptic pH.”
Suzuki and colleagues published their study in Proceedings of the National Academy of Sciences of the United States of America (Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine. Proceedings of the National Academy of Sciences of the United States of America, 2010;107(36):15963-8).
For additional information, contact M. Suzuki, University of Tokyo, Dept. of Internal Medicine, Bunkyo-ku, Japan.
Keywords: Country:Japan, Headache, Headache and Migraine, Migraine, Neurology. This article was prepared by Obesity, Fitness & Wellness Week editors from staff and other reports. Copyright 2010, Obesity, Fitness & Wellness Week via NewsRx.com.
