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Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young
Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658959/ https://www.ncbi.nlm.nih.gov/pubmed/36361703 http://dx.doi.org/10.3390/ijms232112910 |
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author | Sousa, Madalena Rego, Teresa Armas, Jácome Bruges |
author_facet | Sousa, Madalena Rego, Teresa Armas, Jácome Bruges |
author_sort | Sousa, Madalena |
collection | PubMed |
description | Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM). A literature search was carried out to scrutinize the subtypes of maturity-onset diabetes of the young (MODY), as well as the connection between the recognized genetic and molecular mechanisms responsible for such phenotypes. Thus far, 14 subtypes of MODY have been identified. Here, the authors review the pathophysiological and molecular pathways in which monogenic diabetes genes are involved. Despite being estimated to affect approximately 2% of all T2DM patients in Europe, the exact prevalence of MODY is still unknown, enhancing the need for research focused on biomarkers. Due to its impact in personalized medicine, a 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. Currently, advances in the genetics field has allowed for the recognition of new DM subtypes, which until now were considered to be slight variations of the typical forms. New molecular insights can define therapeutic strategies, aiming for the prevention, correction, or at least delay of β-cell dysfunction. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations to improve diagnosis and individualize treatment. |
format | Online Article Text |
id | pubmed-9658959 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96589592022-11-15 Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young Sousa, Madalena Rego, Teresa Armas, Jácome Bruges Int J Mol Sci Review Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM). A literature search was carried out to scrutinize the subtypes of maturity-onset diabetes of the young (MODY), as well as the connection between the recognized genetic and molecular mechanisms responsible for such phenotypes. Thus far, 14 subtypes of MODY have been identified. Here, the authors review the pathophysiological and molecular pathways in which monogenic diabetes genes are involved. Despite being estimated to affect approximately 2% of all T2DM patients in Europe, the exact prevalence of MODY is still unknown, enhancing the need for research focused on biomarkers. Due to its impact in personalized medicine, a 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. Currently, advances in the genetics field has allowed for the recognition of new DM subtypes, which until now were considered to be slight variations of the typical forms. New molecular insights can define therapeutic strategies, aiming for the prevention, correction, or at least delay of β-cell dysfunction. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations to improve diagnosis and individualize treatment. MDPI 2022-10-26 /pmc/articles/PMC9658959/ /pubmed/36361703 http://dx.doi.org/10.3390/ijms232112910 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Sousa, Madalena Rego, Teresa Armas, Jácome Bruges Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title | Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title_full | Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title_fullStr | Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title_full_unstemmed | Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title_short | Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young |
title_sort | insights into the genetics and signaling pathways in maturity-onset diabetes of the young |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9658959/ https://www.ncbi.nlm.nih.gov/pubmed/36361703 http://dx.doi.org/10.3390/ijms232112910 |
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