Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with type 1 or type 2 diabetes, as the clinical sympto...
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doaj-06af3dfda2794b9fa3fe6bd9d819af8f2021-07-23T13:46:19ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-07-01227553755310.3390/ijms22147553Maturity Onset Diabetes of the Young—New Approaches for Disease ModellingDawid Skoczek0Józef Dulak1Neli Kachamakova-Trojanowska2Malopolska Centre of Biotechnology, Jagiellonian University, 30-387 Krakow, PolandDepartment of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, 30-387 Krakow, PolandMalopolska Centre of Biotechnology, Jagiellonian University, 30-387 Krakow, PolandMaturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with type 1 or type 2 diabetes, as the clinical symptoms largely overlap. Even though several biomarkers have been tested none of which could be used as single clinical discriminator. The correct diagnosis for individuals with MODY is of utmost importance, as the applied treatment depends on the gene mutation or is subtype-specific. Moreover, in patients with HNF1A-MODY, additional clinical monitoring can be included due to the high incidence of vascular complications observed in these patients. Finally, stratification of MODY patients will enable better and newer treatment options for MODY patients, once the disease pathology for each patient group is better understood. In the current review the clinical characteristics and the known disease-related abnormalities of the most common MODY subtypes are discussed, together with the up-to-date applied diagnostic criteria and treatment options. Additionally, the usage of pluripotent stem cells together with CRISPR/Cas9 gene editing for disease modelling with the possibility to reveal new pathophysiological mechanisms in MODY is discussed.https://www.mdpi.com/1422-0067/22/14/7553MODYHNF1AHNF4AGCKiPSCsCRISPR/Cas9 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Dawid Skoczek Józef Dulak Neli Kachamakova-Trojanowska |
spellingShingle |
Dawid Skoczek Józef Dulak Neli Kachamakova-Trojanowska Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling International Journal of Molecular Sciences MODY HNF1A HNF4A GCK iPSCs CRISPR/Cas9 |
author_facet |
Dawid Skoczek Józef Dulak Neli Kachamakova-Trojanowska |
author_sort |
Dawid Skoczek |
title |
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling |
title_short |
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling |
title_full |
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling |
title_fullStr |
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling |
title_full_unstemmed |
Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling |
title_sort |
maturity onset diabetes of the young—new approaches for disease modelling |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1661-6596 1422-0067 |
publishDate |
2021-07-01 |
description |
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with type 1 or type 2 diabetes, as the clinical symptoms largely overlap. Even though several biomarkers have been tested none of which could be used as single clinical discriminator. The correct diagnosis for individuals with MODY is of utmost importance, as the applied treatment depends on the gene mutation or is subtype-specific. Moreover, in patients with HNF1A-MODY, additional clinical monitoring can be included due to the high incidence of vascular complications observed in these patients. Finally, stratification of MODY patients will enable better and newer treatment options for MODY patients, once the disease pathology for each patient group is better understood. In the current review the clinical characteristics and the known disease-related abnormalities of the most common MODY subtypes are discussed, together with the up-to-date applied diagnostic criteria and treatment options. Additionally, the usage of pluripotent stem cells together with CRISPR/Cas9 gene editing for disease modelling with the possibility to reveal new pathophysiological mechanisms in MODY is discussed. |
topic |
MODY HNF1A HNF4A GCK iPSCs CRISPR/Cas9 |
url |
https://www.mdpi.com/1422-0067/22/14/7553 |
work_keys_str_mv |
AT dawidskoczek maturityonsetdiabetesoftheyoungnewapproachesfordiseasemodelling AT jozefdulak maturityonsetdiabetesoftheyoungnewapproachesfordiseasemodelling AT nelikachamakovatrojanowska maturityonsetdiabetesoftheyoungnewapproachesfordiseasemodelling |
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1721287743083905024 |