Nihon rinsho. Japanese journal of clinical medicine
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The present paper reviews the recent progress of analysis of nephrogenic diabetes insipidus (NDI). NDI has been considered as a X-linked recessive inheritance. Arginine vasopressin (AVP) V2 receptors were cloned and characterized its structural and functional properties. ⋯ Recent studies elucidated the mutations of AQP-2 gene in several families with autosomal recessive NDI. Also, the mutations of AQP-2 gene were found in patients with NDI, who were thought as autosomal dominant inheritance. Therefore, both mutations of AVP V2 receptors and AQP-2 are involved in pathogenesis of NDI.
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Efforts to reveal specific aspects of protein structure with channel function have been carried out for more than a decade. Recent progresses in this field have been achieved by site-directed mutagenesis of the sodium channel DNA as well as other techniques. Among them I briefly review four topics in this article: (1) extracellular mouth of the ion conducting pore and ion selectivity filter which are correlated to the site of tetrdotoxin binding, (2) cytoplasmic mouth of the ion pore which is correlated with the binding site of local anesthetics, (3) inactivation gate, parts of which are related to periodic paralysis and paramyotonia, and (4) sodium channel blockers as neuprotective drugs.