ijms-logo

Journal Browser

Journal Browser

Molecular Advances in Osteoporosis Study

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 September 2024 | Viewed by 2166

Special Issue Editors


E-Mail Website
Guest Editor
Internal Medicine Department, University Hospital Rio Hortega of Valladolid, 47012 Valladolid, Spain
Interests: vitamin D; bone; bone fragility; osteoporosis; bone metabolic disease

E-Mail Website
Guest Editor
School of Medicine, University of Valladolid, 47002 Valladolid, Spain
Interests: molecular genetics; molecular medicine; genetic biomarkers; chronic diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Osteoporosis is a bone disease that develops when bone mineral density and bone mass decrease, or when the structure and strength of bone change. This can lead to a decrease in bone strength, increasing the risk of fractures (broken bones). Testosterone, estrogen, SHBG, and FSH levels help to determine bone mass accrual, BMD maintenance, and lifetime decrease. Fractures are the most serious complication of osteoporosis and are responsible for the morbidity and mortality rates associated with the disease. Therefore, the establishment of risk scales or algorithms that help us to predict the risk of fracture is key to the establishment of the most efficient therapeutic measures. Currently, the most widely used tool is the FRAX, adapted to each country and sponsored by the WHO.

There is a parallel between osteoporosis and cardiovascular disease. Risk factors determine the occurrence of the different events that establish the severity of the disease. On the other hand, there are etiopathogenic elements common to both diseases that can help modify the risk of complications, justifying an analysis of the relationship between both processes. In particular, we welcome research studies covering novel signaling pathways and signaling molecules between both diseases.

This Special Issue aims to update research on signaling molecules and preclinical approaches to osteoporosis and overall fracture risk. Since IJMS is a journal of molecular science, purely clinical studies will not be suitable. However, clinical or pure model submissions with biomolecular experiments are welcomed.

Prof. Dr. José Luis P. Pérez-Castrillón
Dr. Ricardo Usategui-Martín
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • osteoporosis
  • fractures
  • the pathogenesis of bone fragility
  • cardiovascular disease
  • molecular mechanisms
  • signaling pathways

Published Papers (2 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

7 pages, 394 KiB  
Communication
High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures
by Álvaro del Real, Raquel Cruz, Carolina Sañudo, José L. Pérez-Castrillón, María I. Pérez-Núñez, Jose M. Olmos, José L. Hernández, Carmen García-Ibarbia, Carmen Valero and Jose A. Riancho
Int. J. Mol. Sci. 2024, 25(4), 2321; https://doi.org/10.3390/ijms25042321 - 15 Feb 2024
Viewed by 881
Abstract
This study explores the genetic factors associated with atypical femoral fractures (AFF), rare fractures associated with prolonged anti-resorptive therapy. AFF are fragility fractures that typically appear in the subtrochanteric or diaphyseal regions of the femur. While some cases resemble fractures in rare genetic [...] Read more.
This study explores the genetic factors associated with atypical femoral fractures (AFF), rare fractures associated with prolonged anti-resorptive therapy. AFF are fragility fractures that typically appear in the subtrochanteric or diaphyseal regions of the femur. While some cases resemble fractures in rare genetic bone disorders, the exact cause remains unclear. This study investigates 457 genes related to skeletal homeostasis in 13 AFF patients by exome sequencing, comparing the results with osteoporotic patients (n = 27) and Iberian samples from the 1000 Genomes Project (n = 107). Only one AFF case carried a pathogenic variant in the gene set, specifically in the ALPL gene. The study then examined variant accumulation in the gene set, revealing significantly more variants in AFF patients than in osteoporotic patients without AFF (p = 3.7 × 10−5), particularly in ACAN, AKAP13, ARHGEF3, P4HB, PITX2, and SUCO genes, all of them related to osteogenesis. This suggests that variant accumulation in bone-related genes may contribute to AFF risk. The polygenic nature of AFF implies that a complex interplay of genetic factors determines the susceptibility to AFF, with ACAN, SUCO, AKAP13, ARHGEF3, PITX2, and P4HB as potential genetic risk factors. Larger studies are needed to confirm the utility of gene set analysis in identifying patients at high risk of AFF during anti-resorptive therapy. Full article
(This article belongs to the Special Issue Molecular Advances in Osteoporosis Study)
Show Figures

Figure 1

10 pages, 1293 KiB  
Communication
A Missense Variant in TP53 Could Be a Genetic Biomarker Associated with Bone Tissue Alterations
by Ricardo Usategui-Martín, Nadia Galindo-Cabello, Salvador Pastor-Idoate, José María Fernández-Gómez, Álvaro del Real, Diego Ferreño, Rebeca Lapresa, Francisco Martín-Rodriguez, José A. Riancho, Ángeles Almeida and José Luis Pérez-Castrillón
Int. J. Mol. Sci. 2024, 25(3), 1395; https://doi.org/10.3390/ijms25031395 - 23 Jan 2024
Viewed by 979
Abstract
Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and [...] Read more.
Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, with TP53 being one of the genes associated therewith. The single nucleotide polymorphism (SNP) Arg72Pro of TP53 is a genetic factor associated with several pathologies, including cancer, stroke, and osteoporosis. Here, we aim to analyze the influence of the TP53 Arg72Pro SNP on bone mass in humanized Tp53 Arg72Pro knock-in mice. This work reports on the influence of the TP53 Arg72Pro polymorphism in bone microarchitecture, OPG expression, and apoptosis bone status. The results show that the proline variant of the TP53 Arg72Pro polymorphism (Pro72-p53) is associated with deteriorated bone tissue, lower OPG/RANK ratio, and lower apoptosis in bone tissue. In conclusion, the TP53 Arg72Pro polymorphism modulates bone microarchitecture and may be a genetic biomarker that can be used to identify individuals with an increased risk of suffering metabolic bone alterations. Full article
(This article belongs to the Special Issue Molecular Advances in Osteoporosis Study)
Show Figures

Figure 1

Back to TopTop