Search for new pharmacological chaperones to treat Fabry disease

Fabry

The US signs an agreement with CSIC and Amicus Therapeutics to develop drugs to help counteract this pathology.

The Bioorganic Chemistry of Carbohydrates research group, led by University of Seville professor Carmen Ortiz Mellet, is working on an international project to explore molecules, called pharmacological chaperones, applicable to the treatment of Fabry disease, a rare genetic disease that can affect the kidneys, heart and skin.The project is an international project to explore molecules, called pharmacological chaperones, applicable to the treatment of Fabry disease, a rare disease of genetic origin that can affect the kidneys, heart and skin. This is an agreement signed with the US biopharmaceutical company Amicus Therapeutics and the CSIC research group led by José Manuel García, from the Institute of Chemical Research (cic-Cartuja).

Pharmacological chaperones are small molecules capable of binding to proteins that, as a result of a genetic alteration, are unable to fold properly, helping them to adopt their correct folding and thus recover their optimal function. In proteins, the three-dimensional structure determines their function, so that a point mutation that prevents them from folding properly and reaching their active form leads to a dysfunction that generally results in severe pathologies. A pharmacological chaperone can specifically bind to the mutated protein, promote its correct folding and restore its function.

The genetic mutations that cause Fabry disease interfere with the activity of an enzyme (lysosomal alpha-galactosidase) that processes biomolecules known as glycosphingolipids. As a consequence, in Fabry patients these lipid substances accumulate in the walls of blood vessels, affecting the functioning of different organs.

The biopharmaceutical company Amicus Therapeutics has the only drug currently on the market based on the pharmacological chaperone concept. This international project aims to develop new second-generation candidates with improved activity and pharmacokinetic properties (related to their assimilation, biodistribution and metabolism). Compounds will be selected on the basis of their efficacy, optimal dosing and number of mutations that may benefit from therapy.

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