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Martinez and collaborators are developing a pharmacological chaperone therapy for acute intermittent porphyria

graphical abstract mol therapy
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Graphical abstract from Molecular Therapy paper

Individuals with acute intermittent porphyria (AIP) carry both normal and defected mutant variants of the enzyme hydroxymethylbilane synthase, and can experience life-threatening and acute neurovisceral attacks when the metabolism is challenged. Through screening of ten thousand compounds, Martinez and colleagues have found a molecule with chaperone potential to enhance the normal-working enzyme in the liver of individuals with AIP. These results give hope to finding both a prophylactic treatment and a cure for AIP.