The TRAPP family of complexes are multisubunit tethering complexes that function in membrane trafficking. There are two TRAPP complexes that have been identified in humans: TRAPP II and TRAPP III. TrappC11 is a protein found in the TRAPP III complex and has been demonstrated to play a role in membrane trafficking, autophagy, glycosylation, and Golgi morphology. Individuals with mutations in this gene display phenotypes including developmental delay, epilepsy, cerebral atrophy, muscular dystrophy, skeletal abnormalities, and hepatomegaly. Drug induced read-through of nonsense codons could be a method of treating individuals with nonsense mutations in TRAPPC11 that result in a nonsense codon. Translational read-through inducing drugs (TRIDs) are small molecule drugs, such as Ataluren and Amlexanox, that function to suppress nonsense codons. This project aims to study the potential read-through efficacy of Ataluren and Amlexanox on fibroblasts derived from an individual with a compound heterozygous mutation where one allele has a nonsense mutation. The other TRAPPC11 patient presented in this paper is used as a comparison, as this patient does not have a nonsense mutation and therefore should not benefit from treatment with TRIDs. Results show treatment with Ataluren or Amlexanox improves various cellular functions in the patient with a nonsense mutation. It is noteworthy that Ataluren is approved for use in the UK and Amlexanox was used in the past in the USA for other human conditions. Further work aims to build upon the preliminary results observed thus far
