Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy

• Main Authors: Robert E. Brown, Senthil Senniappan, Khalid Hussain, Mary F. McGuire
• Format: Article
• Language: English
• Published: BMC 2017-12-01
• Series: Orphanet Journal of Rare Diseases
• Subjects: Morphoproteomics; Biomedical analytics; Congenital hyperinsulinism of infancy; Sirolimus
• Online Access: http://link.springer.com/article/10.1186/s13023-017-0735-9
• ISSN: 1750-1172

Abstract We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide treatment. Subsequent publications have verified the efficacy of such treatment in some cases but limited and variable in others. We present further evidence of a constant but variable role for the mTOR pathway in the biology of CHI and provide a strategy that allows for the short-term testing of sirolimus in individual CHI patients.