Drug Discovery and Development

  • Home Drug Discovery and Development
  • Drug Discovery
  • Women in Pharma and Biotech
  • Oncology
  • Neurological Disease
  • Infectious Disease
  • Resources
    • Video features
    • Podcast
    • Webinars
  • Pharma 50
    • 2025 Pharma 50
    • 2024 Pharma 50
    • 2023 Pharma 50
    • 2022 Pharma 50
    • 2021 Pharma 50
  • Advertise
  • SUBSCRIBE

Study: Mutation + Osteoporosis Drug Increases Risk for Femur Fracture

By IMIM (HOSPITAL DEL MAR MEDICAL RESEARCH INSTITUTE) | May 4, 2017

Mutation discovered that, linked with drug, predisposes osteoporosis patients to femur fracture.

Researchers at the Hospital del Mar Medical Research Institute (IMIM) and the University of Barcelona have uncovered a mutation that makes bone vulnerable to bisphosphonates, drugs used to combat osteoporosis. Instead of strengthening bone and preventing fractures, these medicines induce a critical problem that makes the femur more prone to breaks. This discovery, enormously significant clinically, was published in the New England Journal of Medicine, the most important biomedical journal in terms of potential impact.

Osteoporosis causes fractures that affect up to 40 percent of people over the age of 50. Bisphosphonates are efficient and cheap, making them the first line of treatment for this condition. Nevertheless, they have been associated with atypical fracturing of the femur. “Despite the rarity of this complication and the fact that many more fractures are prevented than induced, fear of this complication has led to the prescription of these drugs being criticized, especially for long-term treatment”, explains study leader Dr. Adolf Díez, emeritus head of internal medicine at Hospital del Mar and a researcher in the musculoskeletal research group at the IMIM. The consequence of this is that the majority of people at high risk of fracture due to osteoporosis (for example, those who have already suffered fractures) do not receive treatment.

The infrequency of this problem made us suspicious that a genetic predisposition makes some people more likely to present atypical fracturing. “The opportunity offered by three cases of atypical fracture in three sisters treated with bisphosphonates over several years, gave us the possibility of looking into a genetic basis that, otherwise, would have been almost impossible to detect”, says Dr. Xavier Nogués, head of internal medicine at Hospital del Mar and coordinator of IMIM’s musculoskeletal research group.

An Exhaustive Genome Study

An exhaustive study of their genome, using the whole exome sequencing technique, enabled us to find a mutation common to the three sisters that could explain why they presented this unusual fracturing. The mutation damages a protein (GGPPS) that is part of a metabolic chain essential for bone health, known as the mevalonate pathway. It is believed that this mutation makes bone vulnerable to the drug, and instead of strengthening it and preventing fractures, it makes it more prone to fractures.

Given this finding, broader studies are needed to be able to transfer genetic analysis techniques to patient care, allowing clinicians to detect people prone to this atypical fracture and who, therefore, should not receive biophosphonates. This would be the first step in confidently prescribing a treatment received by millions of people around the world. It is also the reason the discovery was chosen as the highest impact study at the world’s most important conference on bone diseases, the annual meeting of the American Society for Bone and Mineral Research, and its publication in the New England Journal of Medicine.

(Source: EurekAlert!)

Follow us on Twitter and Facebook for updates on the latest pharmaceutical and biopharmaceutical manufacturing news!


Filed Under: Drug Discovery

 

Related Articles Read More >

Lokavant’s Spectrum v15 uses AI to cut trial-feasibility modeling from weeks to minutes
Prime time for peptide-based drug discovery 
Why smaller, simpler molecular glues are gaining attention in drug discovery
Glass vial, pipette and woman scientist in laboratory for medical study, research or experiment. Test tube, dropper and professional female person with chemical liquid for pharmaceutical innovation
Unlocking ‘bench-to-bedside’ discoveries requires better data sharing and collaboration
“ddd
EXPAND YOUR KNOWLEDGE AND STAY CONNECTED
Get the latest news and trends happening now in the drug discovery and development industry.

MEDTECH 100 INDEX

Medtech 100 logo
Market Summary > Current Price
The MedTech 100 is a financial index calculated using the BIG100 companies covered in Medical Design and Outsourcing.
Drug Discovery and Development
  • MassDevice
  • DeviceTalks
  • Medtech100 Index
  • Medical Design Sourcing
  • Medical Design & Outsourcing
  • Medical Tubing + Extrusion
  • Subscribe to our E-Newsletter
  • Contact Us
  • About Us
  • R&D World
  • Drug Delivery Business News
  • Pharmaceutical Processing World

Copyright © 2025 WTWH Media LLC. All Rights Reserved. The material on this site may not be reproduced, distributed, transmitted, cached or otherwise used, except with the prior written permission of WTWH Media
Privacy Policy | Advertising | About Us

Search Drug Discovery & Development

  • Home Drug Discovery and Development
  • Drug Discovery
  • Women in Pharma and Biotech
  • Oncology
  • Neurological Disease
  • Infectious Disease
  • Resources
    • Video features
    • Podcast
    • Webinars
  • Pharma 50
    • 2025 Pharma 50
    • 2024 Pharma 50
    • 2023 Pharma 50
    • 2022 Pharma 50
    • 2021 Pharma 50
  • Advertise
  • SUBSCRIBE