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Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

Author(s):

M Sousa and J Bruges-Armas*   Pages 1 - 13 ( 13 )

Abstract:


Background: Diabetes (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes.

Methods: Authors did a literature search with the purpose of highlighingt and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes.

Results: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM – transient, permanent, and syndromic.

Discussion: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately.

Conclusion: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.

Keywords:

Diabetes mellitus, Genetics, Monogenic diabetes, Maturity-onset diabetes of the young, Neonatal diabetes, Maternally inherited diabetes, Deafness

Affiliation:

Serviço Especializado de Epidemiologia e Biologia Molecular (SEEBMO). Hospital de Santo Espírito da Ilha Terceira (HSEIT). Angra do Heroísmo, Azores, Serviço Especializado de Epidemiologia e Biologia Molecular (SEEBMO). Hospital de Santo Espírito da Ilha Terceira (HSEIT). Angra do Heroísmo, Azores



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