HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Glaser, B. Search for Related Content PubMed PubMed Citation Articles by Glaser, B. Related Collections Related Articles Social Bookmarking                What's this?

Insulin Mutations in Diabetes

The Clinical Spectrum

Endocrinology and Metabolism Service, Internal Medicine Department, Hadassah-Hebrew University Medical School, Jerusalem, Israel

Address correspondence and reprint requests to Benjamin Glaser, MD, Endocrinology and Metabolism, Hadassah Hospital, P.O.B. 12000, Jerusalem 91120, Israel. E-mail: beng@cc.huji.ac.il

Key Words: ER, endoplasmic reticulum • MODY, maturity-onset diabetes of the young • NDM, neonatal diabetes mellitus • PNDM, permanent NDM • TNDM, transient NDM

The first 20% of the full text of this article appears below.

Studies of monogenic disorders of β-cell function have yielded important information on β-cell physiology and have improved the diagnosis and treatment of patients with these rare diseases. These disorders include defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes. The most common form of monogenic diabetes is so-called maturity-onset diabetes of the young (MODY) syndrome, causing autosomal dominant non–insulin dependent diabetes appearing before the age of 25 years. Mutations in six genes can cause MODY, although in 16–45% of cases the genetic etiology is still unknown (1). Neonatal diabetes mellitus (NDM) is another form of monogenic diabetes, usually defined as overt diabetes diagnosed during the first 6 months of life (2). The disease is rare (incidence 1:300,000–500,000 live births), and 50% of patients have transient NDM (TNDM), in which the disease remits after a few months but may reappear months or years later. The other 50% have permanent NDM (PNDM). In a small percentage of these, diabetes is part of a complex clinical syndrome involving organs other than the endocrine pancreas. For those with isolated PNDM, mutations in four different genes have been identified. Inactivating glucokinase mutations were discovered first, but appear to be rather rare causes of this syndrome (3). Activating mutations in either of the two subunits of the β-cell ATP-sensitive K⁺ channel, ABCC8 and KCNJ11, are more frequently seen (4,5).

In a landmark report last year, Stoy et al. (6) described 16 patients with PNDM caused by insulin gene mutations. These mutations appear to . . . [Full Text of this Article]

CiteULike    Del.icio.us    Digg    Reddit    Technorati    What's this?

Related Articles:

Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy: A Report From the French ND (Neonatal Diabetes) Study Group

Michel Polak, Aurélie Dechaume, Hélène Cavé, Revital Nimri, Hélène Crosnier, Véronique Sulmont, Marc de Kerdanet, Raphael Scharfmann, Yael Lebenthal, Philippe Froguel, and Martine Vaxillaire
Diabetes 2008 57: 1115-1119. [Abstract] [Full Text] [PDF]