Monogenic diabetes is a form of diabetes resulting from a single pathogenic genetic alteration, is the focus of a recent study published in Nature Reviews Disease Primers. This form of diabetes typically has an early onset and provides a unique window into the epidemiology, pathophysiology, diagnosis, and treatment of these conditions. The study also delves into the quality of life of patients and the open research questions in this field.
The study highlights the importance of genetic insights in providing population-based precision in care for diabetes. It discusses the role of the glucokinase gene, which, when mutated, leads to one of the most prevalent forms of monogenic diabetes. The study also points out the incomplete penetrance of pathogenic mutations in monogenic diabetes genes, which are even found in patients with suspected typical Type 2 Diabetes Mellitus (T2DM).
The researchers emphasize the need for a better understanding of the common forms of type 1 and type 2 diabetes through the lens of diabetes. They also highlight the importance of recent advances in genomics in improving precision diagnosis and personalized care of maturity-onset diabetes of the young.
The study underscores the fact that many cases of diabetes are likely missed due to the lack of comprehensive genetic testing. It also points out that pathogenic variants of MODY-genes are found in adult patients with early-onset type 2 diabetes.
The researchers also discuss the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. They highlight the role of various genes, including the hepatocyte nuclear factor-1alpha gene and the hepatocyte nuclear factor-4α gene, in leading to prevalent forms of monogenic diabetes.
The study concludes by emphasizing the need to increase clinical skills and change the genetic testing strategy for monogenic diabetes. It also highlights the potential of monogenic diabetes as a gateway to precision medicine in diabetes.
This comprehensive review of monogenic diabetes provides a valuable resource for clinicians and researchers in the field, offering insights into the genetic underpinnings of this form of diabetes and the potential for personalized treatment strategies.
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