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PMID: 20938745 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Reviews in endocrine & metabolic disorders ·Vol. 11 ·No. 3 ·2010-09-00 ·Pages 205-15

Støy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI

Abstract

Over the last decade our insight into the causes of neonatal diabetes has greatly expanded. Neonatal diabetes was once considered a variant of type 1 diabetes that presented early in life. Recent advances in our understanding of this disorder have established that neonatal diabetes is not an autoimmune disease, but rather is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. Moreover, a correct genetic diagnosis can affect treatment and clinical outcome. This is especially true for patients with mutations in the genes KCNJ11 or ABCC8 that encode the two protein subunits (Kir6.2 and SUR1, respectively) of the ATP-sensitive potassium channel. These patients can be treated with oral sulfonylurea drugs with better glycemic control and quality of life. Recently, mutations in the insulin gene (INS) itself have been identified as another cause of neonatal diabetes. In this article, we review the role of INS mutations in the pathophysiology of neonatal diabetes.

MeSH Terms
Amino Acid Sequence Animals Congenital Hyperinsulinism/etiology,genetics Diabetes Mellitus, Type 1/congenital,genetics Humans Infant, Newborn Infant, Newborn, Diseases/genetics Insulin/biosynthesis,genetics Models, Biological Molecular Biology Molecular Sequence Data Mutation/physiology Proinsulin/genetics
Chemicals
Insulin Proinsulin
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Støy Julie
Department of Internal Medicine and Endocrinology, Aarhus University Hospital, Nørrebrogade 44, 8000, Aarhus C, Denmark. [email protected]
Steiner Donald F
Park Soo-Young
Ye Honggang
Philipson Louis H
Bell Graeme I
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Article Info
Journal
Reviews in endocrine & metabolic disorders
Abbr.
Rev Endocr Metab Disord
ISSN
1573-2606
DOI
10.1007/s11154-010-9151-3
Email
[email protected]
Published
2010-09-00
Pages
205-15
Language
English
Region
Germany
NLM ID
100940588
PMCID
PMC2974937
Subset
IM
Grants
NIDDK NIH HHS · DK-13914 · United States
NIDDK NIH HHS · R01 DK048494 · United States
NIDDK NIH HHS · DK-20595 · United States
NIDDK NIH HHS · R01 DK013914 · United States
NIDDK NIH HHS · DK-48494 · United States
NIDDK NIH HHS · P30 DK020595 · United States
NIDDK NIH HHS · P60 DK020595 · United States
Corrections
ErratumIn
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External Links
PubMed source DOI: 10.1007/s11154-010-9151-3 PMC Full Text View journal details
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