Pregnancy-induced diabetes, also known as gestational diabetes, is a common metabolic complication of pregnancy. The disorder carries a significant risk of adverse obstetric outcome. Additionally, it is associated with a high risk of recurrence, progression to maternal type 2 diabetes as well as an elevated risk of obesity in foetuses exposed to hyperglycaemia during gestation.
The mechanisms causing gestational diabetes are complex and incompletely understood. The disorder has a strong underlying genetic element that interacts with lifestyle factors and the physiologic changes accompanying pregnancy to alter maternal glucose regulation.
A team of researchers from the Faculty of Medicine and Surgery have applied high-throughput genomics to identify rare highly-penetrant genetic variants that drive the development of gestational diabetes.
The study, entitled 'Screening for monogenic subtypes of gestational diabetes in a high prevalence island population - a whole exome sequencing study' provides the first description of atypical diabetes presenting in pregnancy in the Maltese population.
This research integrates clinical medicine, genomics and protein modelling with longitudinal follow-up data. The paper highlights the genetic heterogeneity underlying disorders of glucose regulation and reinforces the role of precision medicine research in unravelling the aetiology of complex traits.
The authors of the study are Dr Nikolai Paul Pace, Ms Barbara Vella, Dr Johann Craus, Dr Ruth Caruana, Prof. Charles Savona-Ventura and Prof. Josanne Vassallo.
The study was supported by a Research Excellence Grant from the University of Malta.
The study has been published in Diabetes Metabolism Research and Reviews and is accessible online: https:/