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Abstract

October to December 2019 | Vol. 12 | Issue 4 | 14
Molecular Diagnosis Aids in Specific Treatment of Rare Diseases
Dhanya Lakshmi N
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Address for Correspondence Email: dhanya.lakshmi@manipal.edu
 
Abstract
Proteus syndrome is an overgrowth disorder caused by somatic mosaicism of the variant c.49G>A (p.Glu17Lys) in AKT1 gene. Miransertib, a small molecule that inhibits AKT1 has been tried in some cancers with the same variant in somatic cells. Noreuil et al. conducted a pharmacodynamic study of Miransertib in Proteus syndrome and concluded that a dose of 5mg/m2/day resulted in a 50% reduction in phosphorylated AKT in tissues of five out of six individuals. The authors demonstrated that 5mg/m2/day could be used as a starting dose of Miransertib for future drug efficacy trials in patients with Proteus syndrome.
 
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