U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial Uncoupling Protein 2 Hyperinsulinism

MedGen UID:
1387109
•Concept ID:
C4330697
•
Disease or Syndrome

Definition

Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial Uncoupling Protein 2 Hyperinsulinism

Professional guidelines

PubMed

Major components of metabolic syndrome and nutritional intakes in different genotype of UCP2 -866G/A gene polymorphisms in patients with NAFLD.
Abbasalizad Farhangi M, Mohseni F, Farajnia S, Jafarabadi MA
J Transl Med 2016 Jun 14;14(1):177. doi: 10.1186/s12967-016-0936-3. PMID: 27301474Free PMC Article
High circulating levels of RBP4 and mRNA levels of aP2, PGC-1alpha and UCP-2 predict improvement in insulin sensitivity following pioglitazone treatment of drug-naïve type 2 diabetic subjects.
Hammarstedt A, Pihlajamäki J, Graham TE, Kainulainen S, Kahn BB, Laakso M, Smith U
J Intern Med 2008 Apr;263(4):440-9. doi: 10.1111/j.1365-2796.2007.01914.x. PMID: 18324929Free PMC Article
The -866A/A genotype in the promoter of the human uncoupling protein 2 gene is associated with insulin resistance and increased risk of type 2 diabetes.
D'Adamo M, Perego L, Cardellini M, Marini MA, Frontoni S, Andreozzi F, Sciacqua A, Lauro D, Sbraccia P, Federici M, Paganelli M, Pontiroli AE, Lauro R, Perticone F, Folli F, Sesti G
Diabetes 2004 Jul;53(7):1905-10. doi: 10.2337/diabetes.53.7.1905. PMID: 15220218

Recent clinical studies

Etiology

SNPs for Genes Encoding the Mitochondrial Proteins Sirtuin3 and Uncoupling Protein 2 Are Associated With Disease Severity, Type 2 Diabetes, and Outcomes in Patients With Pulmonary Arterial Hypertension and This Is Recapitulated in a New Mouse Model Lacking Both Genes.
Zhang Y, Zervopoulos SD, Boukouris AE, Lorenzana-Carrillo MA, Saleme B, Webster L, Liu Y, Haromy A, Tabatabaei Dakhili SA, Ussher JR, Sutendra G, Michelakis ED
J Am Heart Assoc 2021 Dec 7;10(23):e020451. Epub 2021 Oct 30 doi: 10.1161/JAHA.120.020451. PMID: 34719264Free PMC Article
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631
Mitochondrial dysfunction and β-cell failure in type 2 diabetes mellitus.
Ma ZA, Zhao Z, Turk J
Exp Diabetes Res 2012;2012:703538. Epub 2011 Nov 9 doi: 10.1155/2012/703538. PMID: 22110477Free PMC Article
Uncoupling protein 2 promoter polymorphism -866G/A, central adiposity, and metabolic syndrome in Asians.
Shen H, Qi L, Tai ES, Chew SK, Tan CE, Ordovas JM
Obesity (Silver Spring) 2006 Apr;14(4):656-61. doi: 10.1038/oby.2006.74. PMID: 16741267
The potential biological mechanisms of arsenic-induced diabetes mellitus.
Tseng CH
Toxicol Appl Pharmacol 2004 Jun 1;197(2):67-83. doi: 10.1016/j.taap.2004.02.009. PMID: 15163543

Diagnosis

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Ferrara CT, Boodhansingh KE, Paradies E, Fiermonte G, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De Leon DD, Palmieri F, Stanley CA
J Clin Endocrinol Metab 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. PMID: 27967291Free PMC Article
Interference of selenium and selenoproteins with the insulin-regulated carbohydrate and lipid metabolism.
Steinbrenner H
Free Radic Biol Med 2013 Dec;65:1538-1547. Epub 2013 Jul 18 doi: 10.1016/j.freeradbiomed.2013.07.016. PMID: 23872396
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631
Rare forms of congenital hyperinsulinism.
Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T
Semin Pediatr Surg 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006. PMID: 21186003
Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion.
Wang H, Chu WS, Lu T, Hasstedt SJ, Kern PA, Elbein SC
Am J Physiol Endocrinol Metab 2004 Jan;286(1):E1-7. Epub 2003 Aug 12 doi: 10.1152/ajpendo.00231.2003. PMID: 12915397

Therapy

Dietary fish oil ameliorates adipose tissue dysfunction in insulin-resistant rats fed a sucrose-rich diet improving oxidative stress, peroxisome proliferator-activated receptor γ and uncoupling protein 2.
Selenscig D , Ferreira MDR , Chicco A , Lombardo YB
Food Funct 2018 Apr 25;9(4):2496-2507. doi: 10.1039/c7fo01993a. PMID: 29645025
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Ferrara CT, Boodhansingh KE, Paradies E, Fiermonte G, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De Leon DD, Palmieri F, Stanley CA
J Clin Endocrinol Metab 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. PMID: 27967291Free PMC Article
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC, Sesti G
Mol Diagn Ther 2012 Oct;16(5):285-302. doi: 10.1007/s40291-012-0002-7. PMID: 23018631
Rare forms of congenital hyperinsulinism.
Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T
Semin Pediatr Surg 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006. PMID: 21186003
Uncoupling protein 2 promoter polymorphism -866G/A, central adiposity, and metabolic syndrome in Asians.
Shen H, Qi L, Tai ES, Chew SK, Tan CE, Ordovas JM
Obesity (Silver Spring) 2006 Apr;14(4):656-61. doi: 10.1038/oby.2006.74. PMID: 16741267

Prognosis

High circulating levels of RBP4 and mRNA levels of aP2, PGC-1alpha and UCP-2 predict improvement in insulin sensitivity following pioglitazone treatment of drug-naïve type 2 diabetic subjects.
Hammarstedt A, Pihlajamäki J, Graham TE, Kainulainen S, Kahn BB, Laakso M, Smith U
J Intern Med 2008 Apr;263(4):440-9. doi: 10.1111/j.1365-2796.2007.01914.x. PMID: 18324929Free PMC Article
Impact of common polymorphisms in candidate genes for insulin resistance and obesity on weight loss of morbidly obese subjects after laparoscopic adjustable gastric banding and hypocaloric diet.
Sesti G, Perego L, Cardellini M, Andreozzi F, Ricasoli C, Vedani P, Guzzi V, Marchi M, Paganelli M, Ferla G, Pontiroli AE, Hribal ML, Folli F
J Clin Endocrinol Metab 2005 Sep;90(9):5064-9. Epub 2005 Jun 28 doi: 10.1210/jc.2005-0404. PMID: 15985484
The uncoupling protein 2 Ala55Val polymorphism is associated with diabetes mellitus: the CARDIA study.
Yu X, Jacobs DR Jr, Schreiner PJ, Gross MD, Steffes MW, Fornage M
Clin Chem 2005 Aug;51(8):1451-6. Epub 2005 Jun 10 doi: 10.1373/clinchem.2004.044859. PMID: 15951317

Clinical prediction guides

Uncoupling proteins: role in insulin resistance and insulin insufficiency.
Chan CB, Harper ME
Curr Diabetes Rev 2006 Aug;2(3):271-83. doi: 10.2174/157339906777950660. PMID: 18220632Free PMC Article
The uncoupling protein 2 Ala55Val polymorphism is associated with diabetes mellitus: the CARDIA study.
Yu X, Jacobs DR Jr, Schreiner PJ, Gross MD, Steffes MW, Fornage M
Clin Chem 2005 Aug;51(8):1451-6. Epub 2005 Jun 10 doi: 10.1373/clinchem.2004.044859. PMID: 15951317
A common polymorphism of uncoupling protein 2 gene is associated with hypertension.
Ji Q, Ikegami H, Fujisawa T, Kawabata Y, Ono M, Nishino M, Ohishi M, Katsuya T, Rakugi H, Ogihara T
J Hypertens 2004 Jan;22(1):97-102. doi: 10.1097/00004872-200401000-00018. PMID: 15106800
Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion.
Wang H, Chu WS, Lu T, Hasstedt SJ, Kern PA, Elbein SC
Am J Physiol Endocrinol Metab 2004 Jan;286(1):E1-7. Epub 2003 Aug 12 doi: 10.1152/ajpendo.00231.2003. PMID: 12915397
Reduced expression of uncoupling proteins-2 and -3 in adipose tissue in post-obese patients submitted to biliopancreatic diversion.
Vettor R, Mingrone G, Manco M, Granzotto M, Milan G, Scarda A, Lombardi A, Greco AV, Federspil G
Eur J Endocrinol 2003 May;148(5):543-50. doi: 10.1530/eje.0.1480543. PMID: 12720538

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...