Gene therapy for Angelman Syndrome: Contemporary approaches and future endeavors.

CONCLUSION: Understanding UBE3A imprinting unravels the path to an etiologic treatment of AS. Gene therapy models tested on mice appeared less effective than anticipated pointing out that activation of paternal UBE3A cannot counteract the existing CNS defects. On the other hand, targeting abnormal downstream cell signaling pathways has provided promising rescue effects. Perhaps, combined reinstatement of paternal UBE3A expression with abnormal signaling pathways-oriented treatment is expected to provide better therapeutic effects. However, AS gene therapy remains debatable in pharmacoeconomics and ethics context.
PMID: 31914913 [PubMed - as supplied by publisher]

Source: Current Gene Therapy - January 6, 2020 Category: Genetics & Stem Cells Authors: Tsagkaris C, Papakosta V, Miranda AV, Zacharopoulou L, Danilchenko V, Matiashova L, Dhar A Tags: Curr Gene Ther Source Type: research