title: Mutational analysis of Kir6.1 in Japanese patients with coronary spastic angina.
abstract: The etiology of coronary spastic angina (CSA) remains uncertain. Mice lacking the gene encoding the inwardly rectifying K(+) channel Kir6.1 were developed as an animal model of CSA. We investigated whether mutation in the coding region of the Kir6.1 gene is detected in Japanese patients with CSA. The study population included 19 Japanese patients with CSA (10 men and 9 women with a mean age of 61+/-14 years). Mutational analysis of the coding region of Kir6.1 was performed by direct sequencing. We found no missense or nonsense mutations in these samples, but we found in one female CSA patient, a single base substitution (C to T) at nucleotide position 111 in exon 2 of the coding region, which was heterozygous and did not cause amino acid substitution (Ile37Ile, silent mutation). In the remaining 18 patients, no base substitution was detected in the coding region of the Kir6.1 gene. No mutation that alters primary structure of Kir6.1 was detected in Japanese patients with CSA. The results indicate that abnormality in the primary structure of Kir6.1 may not be involved in the genetic pathogenesis of CSA in humans.
authors.affiliation: The Second Department of Internal Medicine, Hirosaki University School of Medicine, Hirosaki 036-8562, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Tomita
authors.forename: Satoko
authors.initials: S
authors.lastname: Sasaki
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Osanai
authors.forename: Takao
authors.initials: T
authors.lastname: Nakano
authors.forename: Takumi
authors.initials: T
authors.lastname: Higuma
authors.forename: Jin
authors.initials: J
authors.lastname: Yokoyama
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Hanada
authors.forename: Minoru
authors.initials: M
authors.lastname: Yasujima
authors.forename: Ken
authors.initials: K
authors.lastname: Okumura
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D000787:Angina Pectoris / Q000235:genetics / Q000473:pathology*; D001483:Base Sequence; D003329:Coronary Vasospasm / Q000235:genetics / Q000473:pathology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007564:Japan; D054086:KATP Channels; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*
chemical_list: D054086:KATP Channels; D024661:Potassium Channels, Inwardly Rectifying; C092520:uK-ATP-1 potassium channel; D004247:DNA