TITLE

MODY: an underdiagnosed and underappreciated condition

AUTHOR(S)
Demirci, Cem; Sperling, Mark A.
PUB. DATE
March 2008
SOURCE
Endocrine Today;3/10/2008, Vol. 6 Issue 4, p8
SOURCE TYPE
Newspaper
DOC. TYPE
Article
ABSTRACT
The article discusses the maturity onset diabetes of youth (MODY), which is often misdiagnosed as type 1 diabetes in younger patients or type 2 diabetes in patients in their late 20s and early 30s. According to the article, there are at least six well-characterized single gene mutations that are associated with MODY. It also briefly describes the most common forms of MODY, MODY 2 and MODY 3, and recommends physicians consider MODY forms in their differential diagnosis.
ACCESSION #
31725046

 

Related Articles

  • Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes in healthy men: prospective cohort study. Salonen, Jukka T. // BMJ: British Medical Journal (International Edition);06/24/2000, Vol. 320 Issue 7251, p1706 

    Presents information on a study which tested the hypothesis that a carrier status for the C282Y gene mutation predicts the development of type 2 diabetes. Characteristics of the participants; Methodology of the study; Results and discussion.

  • Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing. Miedzybrodzka, Z; Hattersley, A T; Ellard, S; Pearson, D; de Silva, D; Harvey, R; Haites, N // European Journal of Human Genetics;Sep99, Vol. 7 Issue 6, p729 

    The most common cause of maturity-onset diabetes of the young (MODY) is a mutation in the hepatic nuclear factor 1αa (HNF1α) gene (MODY3). We describe a family in which a missense mutation causing a Thr-Ile substitution at codon 620 has been found in all affected members. The mutation is...

  • Association of Adiponectin Mutation With Type 2 Diabetes. Hidehiko Kondo; Iichiro Shimomura; Yuko Matsukawa; Masahiro Kumada; Masahiko Takahashi; Morihiro Matsuda; Noriyuki Ouchi; Shinji Kihara; Toshiharu Kawamoto; Satoru Sumitsuji; Tohru Funahashi; Yuji Matsuzawa // Diabetes;Jul2002, Vol. 51 Issue 7, p2325 

    Adiponectin, also referred to as AdipoQ or ACRP30, is a plasma protein produced and secreted exclusively from adipose tissue. The protein contains a collagen-like domain and a C1q-like globular domain. A protease-generated globular segment enhances fatty acid oxidation in muscles, thereby...

  • A Missense Mutation of Pax4 Gene (R121W) Is Associated With Type 2 Diabetes in Japanese. Shimajiri, Yoshinori; Sanke, Tokio; Furuta, Hiroto; Hanabusa, Tadashi; Nakagawa, Takayuki; Fujitani, Yoshio; Kajimoto, Yoshitaka; Takasu, Nobuyuki; Nanjo, Kishio // Diabetes;Dec2001, Vol. 50 Issue 12, p2864 

    Examines the association between the missense mutation of Pax4 gene and type 2 diabetes in Japan. Effect of the mutation on the transcription activity of the Pax4 gene; Role of the gene in the differentiation of islet beta-cells; Comparison of the glucose levels between heterozygous and...

  • Basic Science - Diabetes.  // Current Medical Literature: Diabetes;2011, Vol. 28 Issue 1, p19 

    This article presents commentaries on two papers on diabetes. The first paper analyzes the role of homozygous mutations in NEUROD1 in the development of the syndrome of permanent neonatal diabetes and neurological abnormalities. The second paper discusses a study on the associations between...

  • Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus. Jae-Pil Jeon; Sung-Mi Shim; Hye-Young Nam; Gil-Mi Ryu; Eun-Jung Hong; Hyung-Lae Kim; Bok- Ghee Han // BMC Genomics;2010, Vol. 11, p426 

    Background: Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes. Mutations and genetic variations of LEPR gene have been discovered in rodents and humans. However, the...

  • Joslin Researchers Shed Light on Genetic Defects That Cause Diabetes; Findings May Lead to Improved Treatments.  // Ascribe Newswire: Medicine;11/25/2002, p14 

    Scientists have discovered genes that are mutated in more specialized forms of diabetes. New findings by Joslin Diabetes Center researchers headed by Steven E. Shoelson, head of the Cellular and Molecular Physiology section at Joslin and the Helen and Morton Adler Chair in Structural Biology,...

  • Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Malecki, Maciej T.; Jhala, Ulupi S.; Antonellis, Anthony; Fields, Liz; Doria, Alessandro; Orban, Tihamer; Saad, Mohammed; Warram, James H.; Montminy, Marc; Krolewski, Andrzej S. // Nature Genetics;Nov99, Vol. 23 Issue 3, p323 

    The helix-loop-helix (HLH) protein NEUROD1 (also known as BETA2) functions as a regulatory switch for endocrine pancreatic development. In mice homozygous for a targeted disruption of Neurod, pancreatic islet morphogenesis is abnormal and overt diabetes develops due in part to inadequate...

  • Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant... Yamagata, Kazuya; Qin Yang; Yamamoto, Koji; Iwahashi, Hiromi; Miyagawa, Jun-ichiro; Okita, Kohei; Yoshiuchi, Issei; Miyazaki, Jun-ichi; Noguchi, Tamio; Nakajima, Hiromu; Namba, Mitsuyoshi; Hanfusa, Toshiaki; Matsuzawa, Yuji // Diabetes;Aug1998, Vol. 47 Issue 8, p1231 

    Examines the functional properties of the mutant P291fsinsC protein in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha) which causes the type 3 form of maturity-onset diabetes of the young (MODY3). Inhibition of endogenous HNF-1alpha activity in a dosage-dependent manner;...

  • Maturity Onset Diabetes of the Young 5. Bellanné-Chantelot, C.; Chauveau, D.; Gautier, J. F.; Dubois- Laforgue, D.; Clauin, S.; Beaufils, S.; Wilhelm, J. M.; Boitard, C.; Noël, L. H.; Velho, G.; Timsit., J. // Annals of Internal Medicine;4/6/2004, Vol. 140 Issue 7, pI42 

    Reports on the study conducted on the maturity-onset diabetes of the young 5 (MODY5). Reduction in insulin production due to mutation in the hepatocyte nuclear factor-1 (HNF-1) gene; Methodology of the study being use of ultrasounds, tomography scans and DNA analysis; Suggestion of MODY5 being...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics