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.

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.

• Authors: Robert E Brown, Senthil Senniappan, Khalid Hussain, Mary F McGuire
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 12 Issue 1 Pg. 181 (12 16 2017) ISSN: 1750-1172 [Electronic] England
• PMID: 29246172 (Publication Type: Letter)

Chemical References

• MTOR protein, human
• TOR Serine-Threonine Kinases
• Diazoxide
• Octreotide
• Sirolimus

Topics

• Congenital Hyperinsulinism (drug therapy, metabolism)
• Diazoxide (therapeutic use)
• Humans
• Infant
• Octreotide (therapeutic use)
• Proteomics (methods)
• Signal Transduction (drug effects)
• Sirolimus (therapeutic use)
• TOR Serine-Threonine Kinases (metabolism)