From Gene to Therapeutic Target in Neuromuscular Diseases [Italian]

By Carlo Rinaldi

Translational research spans from gene identification to definition of a target for therapeutic intervention. Here two examples of a translational approach are discussed in two diseases of the motor unit: Cowchock syndrome, a X-linked neuropathy with deafness and mental retardation, and Spinal and bulbar muscular atrophy, a X-linked polyglutamine disease. In the first part, by using the means of next generation sequencing, a novel mutation in AIFM1 gene is identified in a large Italian-American family and its functional consequences on the encoded protein are investigated. In the second part, the efficacy of treatment with recombinant human IGF-1 in complex with IGFBP-3 is established in cellular and animal models of Spinal and bulbar muscular atrophy, based on the evidence that IGF-1 is able to counteract the toxicity by targeting the mutant protein, Androgen Receptor, for degradation.

• Format: Paperback
• Language: Italian
• ISBN: 3639774124
• ISBN13: 9783639774122
• Release Date: October 2015
• Publisher: Edizioni Accademiche Italiane
• Length: 100 Pages
• Weight: 0.35 lbs.
• Dimensions: 0.2" x 6.0" x 9.0"