Development of new medication against proximal renal tubular acidosis

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Hereditary proximal renal tubular acidosis by NBCe1 mutations is a difficult-to-treat disease with severe acidemia, ocular abnormalities, and stunted growth. Because a premature stop-codon NBCe1 mutation W516X was recently identified, we produced mice carrying this mutation. W516X knock-in homo mice showed severe acidemia, ocular abnormalities, and stunted growth like human patients. They may be useful for the evaluation of new molecular therapy for proximal renal tubular acidosis. We also found that defective membrane expression of NBCe1 is associated with migraine.