Stephen I. Stone, MD

Instructor of Medicine, Pediatrics

Research Interest

Metabolic Regulation

Islet Biology/Immunology

Category(ies) of Research

Basic

Translational

Descriptor of Research

Insulin Mediated Pseudoacromegaly (IMPA) is an extremely rare disorder of insulin resistance. Patients affected with this condition have high blood sugar, obesity, and very tall stature. Women with this disease often have excessive body hair and irregular menstrual cycles. Patient with IMPA have physical signs of growth hormone excess (gigantism or acromegaly), however their growth hormone levels are normal. However, patients with IMPA have extremely high insulin levels. Therefore, IMPA is classified as an insulin resistance syndrome. Thus far there is no known genetic or molecular cause of this disease.

Most other known genetic insulin resistance syndromes are associated with short stature. However, individuals with IMPA exhibit signs of tall stature and overgrowth. Therefore, it is hypothesized that IMPA results from a downstream defect in insulin signaling. As a result, the glucose lowering ability of insulin is impaired while the growth promoting ability of insulin enhanced.

Our lab is focused on pursuing the genetic and molecular underpinnings of IMPA in order to shed light on the basic biology insulin resistance and secretion.

Department of Pediatrics

Publications

  1. Stone S, Abreu D, Mahadevan J, Asada R, Kries K, Graf R, Marshall BA, Hershey T, Urano F. Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells. Sci Rep. 2019 Mar 26;9(1):5199. doi: 10.1038/s41598-019-41604-4. PubMed PMID: 30914711; PubMed Central PMCID: PMC6435683.
  2. Zessis NR, Nicholas JL, Stone SI. Severe bilateral adrenal hemorrhages in a newborn complicated by persistent adrenal insufficiency. Endocrinol Diabetes Metab Case Rep. 2018;2018. doi: 10.1530/EDM-17-0165. eCollection 2018. PubMed PMID: 29479447; PubMed Central PMCID: PMC5820741.
  3. Arbelaez A, Thomas M, Clark A, Stone S. Endocrinology . In: The Washington Manual of Pediatrics. 2nd ed. White AJ, editor. Philadelphia, PA: Wolters Kluwer; 2015. Chapter 18; p.305-336.
  4. Thompson WR, Yosowitz T, Stone S. Pediatric Echocardiography . In: Heart Diseases in Children. Abdulla R, editor. New York: Springer; 2011. Chapter 4.
  5. Vitrenko YA, Pavon ME, Stone SI, Liebman SW. Propagation of the [PIN+] prion by fragments of Rnq1 fused to GFP. Curr Genet. 2007 May;51(5):309-19. doi: 10.1007/s00294-007-0127-0. Epub 2007 Apr 6. PubMed PMID: 17415568; PubMed Central PMCID: PMC2597802.