Naポンプとその異常

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.