Ataluren Powder API CAS 775304-57-9

Ataluren Powder API CAS 775304-57-9 is primarily used to treat Duchenne muscular dystrophy, caused by nonsense mutations in the dystrophin gene. Its core function is to help the body synthesize functional dystrophin through a ribosomal readthrough mechanism. Duchenne muscular dystrophy is a rare X-linked neuromuscular degenerative disease, mainly caused by abnormalities in the dystrophin gene, resulting in premature stop codons on the mRNA. This causes premature termination of protein translation, preventing the synthesis of complete and functional dystrophin, leading to progressive muscle atrophy and decreased motor function. Ataluren binds to ribosomes, causing them to ignore the premature stop signal on the mRNA and continue the normal translation process, thereby generating full-length, functional dystrophin and slowing disease progression.

Ataluren (PTC124) selectively induces ribosomal transcriptional readthrough without affecting normal stop codons. Its EC50 in HEK293 cells is 0.1 μM, and it can treat familial genetic diseases caused by nonsense mutations (such as CF caused by CFTR nonsense mutations).