Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin
Pike-See Cheah, Shilpa Prabhakar, David Yellen, Roberta L. Beauchamp, Xuan Zhang, Shingo Kasamatsu, Roderick T. Bronson, Elizabeth A. Thiele, David J. Kwiatkowski, Anat Stemmer‐Rachamimov, Bence György, King‐Hwa Ling, Masao Kaneki, Bakhos A. Tannous, Vijaya Ramesh, Casey A. Maguire, Xandra O. Breakefield
Abstract
-floxed alleles at birth, leading to a shortened lifespan (mean 58 days) and brain pathology consistent with TSC. When these mice were injected intravenously on day 21 with AAV9-cTuberin, the mean survival was extended to 462 days with reduction in brain pathology. This demonstrates the potential of treating life-threatening TSC2 lesions with a single intravenous injection of AAV9-cTuberin.
Topics & Concepts
Tuberous sclerosisGenetic enhancementGeneLife spanDiseaseGene deliveryBiologyMedicineGeneticsPathologyEvolutionary biologyTuberous Sclerosis Complex ResearchPI3K/AKT/mTOR signaling in cancerPluripotent Stem Cells Research