Martinez lab

From molecule to medicine

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

graphical abstract mol therapy
Graphical abstract from Molecular Therapy paper

Main content

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.