NF1, Neurofibromin and Gene Therapy: Prospects of Next Generation Therapy.

NF1, Neurofibromin and Gene Therapy: Prospects of Next Generation Therapy. Curr Gene Ther. 2020 Aug 05;: Authors: Cui XW, Ren JY, Gu YH, Li QF, Wang ZC Abstract Neurofibromatosis type 1 [NF1] is an autosomal dominant genetic disorder affecting multiple organs. NF1 is well known for its various clinical manifestations including café-au-late macules, Lisch nodules, bone deformity and neurofibromas. However, there is no effective therapy for NF1. Current therapies are aimed at alleviating NF1 clinical symptoms but not curing the disease. By altering pathogenic genes, gene therapy regulates cell activities at the nucleotide level. In this review, we described the structure and functions of neurofibromin domains, including GAP-related domain [GRD], cysteine-serine rich domain [CSRD], leucine rich domain [LRD] and C-terminal domain [CTD], which respectively alter downstream pathways. By transfecting isolate sequences of these domains, researchers can partially restore normal cell functions in neurofibroma cell lines. Furthermore, recombinant transgene sequences may be designed to encode truncated proteins, which is functional and easy to be packaged into viral vectors. In addition, the treatment effect of gene therapy is also determined by various factors such as the vectors selection, transgene packaging strategies and drug administration. We summarized multiple NF1 gene therapy strategies and discussed their feasibility from multiple an...
Source: Current Gene Therapy - Category: Genetics & Stem Cells Authors: Tags: Curr Gene Ther Source Type: research