This Monday, 07/04/2025 at 10:00 AM, Ms. Berta Mas defended her doctoral thesis entitled: “The impact of imprinted genes on growth and cardiometabolic risk in healthy boys and girls”, supervised by Dr. Abel López Bermejo and Dr. Judit Bassols Casadevall.

Abstract:

Imprinted genes are expressed exclusively from one parental allele, either maternal or paternal. They play essential roles in the growth of both the fetus and the placenta, as well as in neurobehavioral traits. These genes are involved in several congenital syndromes known as imprinting disorders, which are lifelong diseases with significant health impacts. Imprinting disorders share a range of clinical features, including pre- and/or postnatal growth delay, overgrowth, hypo- or hyperglycemia, disordered eating behavior, and behavioral difficulties during childhood.

Although alterations in imprinted genes have been extensively studied in relation to these syndromes, their role in prenatal and postnatal growth in the general population is less well understood. In this context, the objective of this thesis was to analyze the association of imprinted genes in birth tissues with prenatal and postnatal growth, as well as with cardiometabolic risk factors at six years of age in children from the general population.

The relationships between gene expression and DNA methylation of three imprinted genes in placenta and umbilical cord, and auxological parameters from a longitudinal cohort followed from birth to six years of age, were studied.

The genes studied are known for their role in two imprinting disorders (Prader-Willi and Silver-Russell). Notably, significant associations were found between these three genes and growth parameters, as well as with obesity-related traits. Specifically, both the SNURF-SNRPN cluster and MEST showed strong associations with auxological measurements from birth to six years of age, identifying them as potential predictors of growth trajectories during childhood. On the other hand, GRB10 was positively associated with obesity-related parameters, positioning it as a strong candidate biomarker for the development of childhood obesity.

This thesis provides valuable insights into the potential of these imprinted genes as biomarkers to predict growth patterns and obesity risk throughout life — factors closely linked to increased disease risk in adulthood. Furthermore, these genes offer opportunities for the development of new therapeutic targets.