Functional Studies and Deep Phenotyping in Monogenic Forms of Diabetes, Severe Insulin Resistance and Hypoglycemia
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".
Deadline for manuscript submissions: 20 September 2025 | Viewed by 180
Special Issue Editor
Special Issue Information
Dear Colleagues,
Monogenic forms of diabetes (MD), severe insulin resistance (SIR), and hyperinsulinemic hypoglycemia (HH) represent a sizeable number of cases in neonates, children, and young adults with these conditions. With the advent of next generation sequencing, many genetic variants with uncertain significance are discovered in genetic labs every day. One of the tools used to ascertain the pathogenic role of a genetic variant in a given disease are functional studies. Due to the intrinsic nature of proteins involved in MD, SIR, and HH that span enzymes, transciption factors, hormones, receptors, ion channels, and transfer-RNAs, functional studies may consist of biochemical assays, cell biology experiments, in vitro assays of transcription factor activity, animal models like mouse knockouts, and studies in human induced pluripotent stem cells (iPSCs) or human embryonic stem cells (hECSs) manipulted by CRISPR. Occasionally, results from functional studies in different variants may explain how variants in the same gene but with different impacts on protein action can cause discrete clinical subgroups of MD, SIR, or HH. This in turn may prompt deep phenotyping of carriers of different variants in the same gene with subtle clinical differences. This Special Issue focuses on any type of functional study commonly applied to support (or exclude) the pathogenic role of a genetic defect in the aforementioned conditions.
Dr. Fabrizio Barbetti
Guest Editor
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Keywords
- monogenic diabetes
- neonatal diabetes mellitus
- MODY
- severe insulin resistance
- insulin receptor
- lipodystrophy
- hyperinsulinemic hypoglycemia
- ABCC8/KCNJ11 dominant forms of HH
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