Naポンプとその異常

• 藤川 太郎

  東京医科歯科大学大学院 医歯学総合研究科 耳鼻咽喉科学分野

• 喜多村 健

  東京医科歯科大学大学院 医歯学総合研究科 耳鼻咽喉科学分野

書誌事項

タイトル別名

• Na⁺/K⁺-ATPase Deficiency-Mutations and Related Diseases
• Na ポンプ ト ソノ イジョウ

抄録

Recently, the structure of Na⁺/K⁺-ATPase and its functional analysi has been dramatically evolved, and our knowledge brings a new dimension to not only resolving the kinetics and functional properties of sodium pump but also elucidating the pathophysiology of Na⁺/K⁺-ATPase related diseases. Mutations affecting the Na⁺/K⁺-ATPase α subunit have been identified at least two distinct rare diseases, Familial hemiplegic migraine type2 (FHM2) and Rapid-onset dystonia-parkinsonism (RDP). Most of their mutation patterns are single amino acid changes or heterozygous missense mutations, which might be associated with a dominant-negative effect pathology. Moreover, more frequent conditions, such as hypertension and bipolar disorder, are also correlated with Na⁺/K⁺-ATPase deficiency and more and more experimental data support it. Besides, recent data suggests that Na⁺/K⁺-ATPase β subunit play a role in developing a certain type of sensorineural hearing loss. Here, we review some Na⁺/K⁺-ATPase related diseases and discuss on their pathophysiology.

収録刊行物

• 膜

  膜 35 (6), 285-290, 2010

  日本膜学会

キーワード

• Na⁺/K⁺-ATPase
• Na pump
• FHM2
• RDP
• Wolfram syndrome

詳細情報

• CRID: 1390282681398713216
• NII論文ID: 10027741955
• NII書誌ID: AN0023215X
• DOI: 10.5360/membrane.35.285
• ISSN: 18846440
• ISSN: 03851036
• NDL書誌ID: 10914088
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I10914088
• Web Site: https://search.jamas.or.jp/link/ui/2011164804
• 本文言語コード: ja
• データソース種別:
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  • NDL
  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可