Jurnal

Many faces of monogenic diabetes

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Monogenic diabetes represents a heterogeneous group of disorders resulting from defects in single genes. Defects are categorized primarily into two groups: disruption of b-cell function or a reduction in the number of b-cells. A complex network of transcription factors control pancreas formation, and a dysfunction of regulators high in the hierarchy leads to pancreatic agenesis. Dysfunction among factors further downstream might cause organ hypoplasia, absence of islets of Langerhans or a reduction in the number of b-cells. Many transcription factors have pleiotropic effects, explaining the association of diabetes with other congenital malformations, including cerebellar agenesis and pituitary agenesis. Monogenic diabetes variants are classified conventionally according to age of onset, with neonatal diabetes occurring before the age of 6 months and maturity onset diabetes of the young (MODY) manifesting before the age of 25 years. Recently, certain familial genetic defects were shown to manifest as neonatal diabetes, MODY or even adult onset diabetes. Patients with neonatal diabetes require a thorough genetic work-up in any case, and because extensive phenotypic overlap exists between monogenic, type 2, and type 1 diabetes, genetic analysis will also help improve diagnosis in these cases. Next generation sequencing will facilitate rapid screening, leading to the discovery of digenic and oligogenic diabetes variants, and helping to improve our understanding of the genetics underlying other types of diabetes. An accurate diagnosis remains important, because it might lead to a change in the treatment of affected subjects and influence long-term complications.

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Detail Information

Series Title

JDI Jurnal of Diabetes Investigation Volume 5, Issue 2 March 2014

Call Number

(05) 616.46 WIL j

Publisher

Australia : Wiley., 2014

Collation

Hlm. 121-133

Language

English

ISBN/ISSN

2040-1124

Classification

(05) 616.46 WIL j

Content Type

-

Media Type

-

Carrier Type

-

Edition

Volume 5, Issue 2

Subject(s)

Next generation sequencing
Monogenic diabetes

Specific Detail Info

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