GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.
N. Roca-Ayats, S. Balcells, N. Garcia-Giralt, M. Falcó-Mascaró, N. Martínez-Gil, J.F. Abril, R. Urreizti, J. Dopazo, J.M. Quesada-Gómez, X. Nogués, L. Mellibovsky, D. Prieto-Alhambra, J.E. Dunford, M.K. Javaid, R.G. Russell, D. Grinberg, A. Díez-Pérez
Researchers find a mutation which predisposes people under osteoporosis treatment to femoral fractures
The study has been carried out within the framework of collaboration between IBUB researchers, led by Professors Daniel Grinberg and Susana Balcells and doctors from the IMIM and the Internal Medicine Service of Hospital del Mar, have discovered a new mutation that has an impact on the bone so that it is vulnerable to the bisphosphonate, a drug used to treat osteoporosis. However, instead of strengthening the bone and prevent it from getting fractures, it would lead to a critical problem and would make the femur more likely to fracture. The new study, of great clinical importance, has been published on the journal New England Journal of Medicine, the journal with the highest scientific impact in the field of biomedicine.
According to the experts Daniel Grinberg and Susana Balcells,”the mutation –which implies the change of a single amino acid- inactivates the necessary enzyme for the geranylgeranyl pyrophosphate synthase, a lipid that holds several cytochrome proteins (from the family of GTPases) onto cell membranes. Without the lipid, these proteins are left apart and they cannot carry their functions out, which are essential for the survival of the osteoclasts, the cells in charge of reabsorbing the bone matrix”.
With this findings, broader studies would be needed in order to bring medical care the techniques of genetic analysis that allow them to detect who is more prone to atypical fractures and therefore shouldn’t get treatment with bisphosphonates. This is the first step to positively prescribe a treatment that millions of people are receiving worldwide. Therefore this discovery was chosen as the study with the highest impact in the main conference on bone diseases worldwide, from the American Society for Bone and Mineral Research), now published in the prestigious journal New England Journal of Medicine.
On the News:
- UB News: Researchers find a mutation which predisposes people under osteoporosis treatment to femoral fractures (04/05/17).
- IMIM News: Mutation discovered that, linked with drug, predisposes osteoporosis patients to femur fracture (04/05/17).
- EurekAlert! - AAAS: Mutation discovered that, linked with drug, predisposes osteoporosis patients to femur fracture (04/05/17).
- MedicalXpress: Newly discovered genetic mutation predisposes osteoporosis patients to femur fracture (05/05/17).