Desing and development of peptide-oligonucleotide conjugates for activating frataxin expression – Ricardo Manuel Chueca González

Friedreich’s Ataxia is a degenerative disease that affects one in 50,000 people. These patients have low levels of the protein frataxin, as they have inherited a mutation in the FXN gene. There is currently no cure. One possible treatment option involves the administration of small nucleic acid fragments (DNA or RNA) that block the mutation and allow the correct expression of frataxin. These types of compounds are unable to cross the brain’s protective barrier, the blood-brain barrier. To circumvent this problem, we have worked on the synthesis of peptides capable of crossing this barrier, so that in the future they may be conjugated with the selected nucleic acids to see if they increase frataxin expression.

Keywords: Friedreich’s ataxia; frataxin; blood-brain barrier; peptides; nucleic acids.

Directed by: Macarena Sánchez Navarro