Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

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.

Ten things to know about ten cardiovascular disease risk factors

“…Among the more common inherited causes of CVD in younger individuals include genetic abnormalities leading to vasculopathies, aneurysmal disorders, cardiomyopathies, and coagulopathies. [ 190 , 352] Genetic abnormalities can also lead to CVD risk factors such as diabetes mellitus [353] and hypertension. [354] Other genetic abnormalities leading to CVD includes inherited dysrhythmia syndromes and genetic dyslipidemias.…”

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

“…Research into childhood-onset monogenic diabetes outside the neonatal period has focused on dominantly inherited genes, especially MODY genes ( HNF1A , HNF4A , GCK ). Clinical studies of MODY and other dominantly inherited monogenic diabetes genes in children [ 1 ] have influenced clinical practice and international guidelines towards patient selection criteria for identifying dominantly inherited causes [ 2 ].…”

“…However, there have been no systematic studies of recessive monogenic diabetes genes in childhood-onset diabetes in populations with high rates of consanguinity. If these genes are common in certain populations, such studies are needed to improve patient selection criteria, gene panels and clinical guidelines for childhood-onset diabetes [ 1 , 2 ].…”

Multifunctional nanoparticle-mediated combining therapy for human diseases

“… 383 , 384 (4) Particular types of diabetes are caused by various factors, such as exocrine pancreatic diseases (cystic fibrosis and pancreatitis), monogenic diabetes syndromes (neonatal diabetes and maturity-onset diabetes of the young), and drug-/chemical-induced diabetes (glucocorticoid use, the compound treatment against HIV/AIDS, and organ transplantation). 385 , 386 …”