Rocío Fuente Pérez is a researcher specializing in physiology, metabolism, and biomedicine, with an outstanding track record in the academic and scientific fields.
She holds a PhD in Biomedicine and has developed her career at prestigious international institutions such as the University of Zurich, the University of Oviedo, the Fundación Jiménez Díaz, and the European University of Madrid, where she is currently a professor of Anatomy, Physiology, and Cell Biology.
She was a postdoctoral researcher under the prestigious Marie Curie Fellowship (Horizon 2020), leading an international project at Harvard University (USA) in collaboration with the University of Oviedo (Spain) and the University of Zurich (Switzerland), focused on the interaction between the immune system and stem cells. Her work has contributed to the development of new therapeutic strategies for bone and metabolic disorders, as well as rare diseases.
Physiology, Metabolism, and Biomedicine
Disrupted Growth Plate Hypertrophy in X-Linked Hypophosphatemia: Insights from 3D Morphological Analysis
X-linked hypophosphatemia (XLH) is a rare disorder ranking among the most common inherited forms of rickets. XLH arises from mutations in the PHEX gene which leads to increased levels of the phosphaturic hormone FGF23, disrupting vitamin D metabolism and causing an imbalance in phosphate homeostasis. This cascade of events manifests in characteristic features including short stature, leg bowing, dental anomalies, and bone deformities. While growth impairment is a prominent feature, limited research focuses on the mechanism underlying this growth arrest.
The growth plate (GP) cells undergo differentiation and hypertrophy, ultimately transforming into bone-forming cells or providing space for new bone formation. Although final length is directly related with final chondrocyte size, in XLH and other growth disorders, little is known about the hypertrophy process, likely due to the GP heterogeneity and complexity. This study utilized advanced three-dimensional morphological analyses of the growth plate of young XLH mice, providing a comprehensive view growth plate mineralization. The integrated approach revealed that growth plate can be divided in more than the 3 classical zones and determines molecular signatures mainly affecting hypertrophy zone in XLH. Indicating that these cells are not able to final differentiate and hypertrophy and therefore synthesize matrix proteins properly, forming eventually an aberrant extrapolation of cells identified as cluster 8 in confocal microscopy. Therefore, these findings highlight an alteration of ECM, in turn, changes the biomechanical environment of articulations independently of grade of bone bowing. This further will drive the progression of degenerative disease as Osteoarthritis even in presence of bone surgery correction. This study enhances our comprehension of XLH's impact on skeletal development and illuminate the underlying molecular mechanisms governing longitudinal bone growth.