RESUMO
The platelet-derived growth factor receptor beta (PDGFRB) gene is involved in proliferative and developmental processes in mammals. Variations in this gene lead to several different syndromic conditions, such as infantile myofibromatosis I, sporadic port-wine stain, primary familial brain calcification, and the Penttinen and overgrowth syndromes. Our objective was to investigate PDGFRB's genetic relationship to clinical conditions and evaluate the protein interactions using GeneNetwork, GeneMANIA, and STRING network databases. We have evidenced the gene's pleiotropy through its many connections and its link to syndromic conditions. Therefore, PDGFRB may be an important therapeutic target for treating such conditions.
Assuntos
Pleiotropia Genética , Predisposição Genética para Doença , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Acro-Osteólise/genética , Sítios de Ligação , Calcinose/genética , Transtornos do Crescimento/genética , Humanos , Deformidades Congênitas dos Membros/genética , Miofibromatose/congênito , Miofibromatose/genética , Mancha Vinho do Porto/genética , Progéria/genética , Mapas de Interação de Proteínas , Receptor beta de Fator de Crescimento Derivado de Plaquetas/química , Receptor beta de Fator de Crescimento Derivado de Plaquetas/metabolismoRESUMO
Data of mice with PDGF-B-truncating mutation (Pdgfb ret/ret) from different research groups indicate that the malfunction of this protein leads to reduced pericyte recruitment, loss of Blood-Brain Barrier (BBB) integrity and bilateral brain calcification. This makes these mice important models for Primary Brain Calcification and pericyte-BBB correlation studies. The global brain pericyte count is reduced in Pdgfb ret/ret mice, with higher BBB permeability. We have overlapped the data from other research groups into a figure to further analyze the findings. Calcifications form within midbrain, interbrain, basal forebrain, and pons. Interestingly, these calcification-prone regions have a comparably higher pericyte count and lower BBB leakage in relation to other non-calcifying regions of the Pdgfb ret/ret mouse (such as the cortex and striatum). A comparatively higher BBB integrity in regions prone to calcification seems paradoxical and indicates that other region-specific changes are the cause of the calcifications.
