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Functional Analyses of Four Missense Mutations Present in Patients with Atypical Femoral Fractures

Int J Mol Sci. 2021-07; 
Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, Natàlia Garcia-Giralt, Neus Roca-Ayats, Diana Ovejero, Xavier Nogués, Adolfo Díez-Pérez, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
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Mutagenesis Services … The mammalian expression vector pcDNA3.1(+) containing the human CYP1A1 wild-type cDNA (NM_000499) was purchased from GenScript (Piscataway, NJ, USA). The desired mutations were inserted using a QuickChange Lightning Site-Directed Mutagenesis Kit (Agilent, … Get A Quote

摘要

Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a rare adverse effect, may appear after prolonged BP administration. Given the low incidence of AFF, an underlying genetic cause that increases the susceptibility to these fractures is suspected. Previous studies uncovered rare mutations in osteoporosis patients who suffered AFF after long-term BP treatment. is involved in drug metabolism and steroid catabolism, making it an interesting candidate. However, a functional validation for the AFF-associated mutations was lacking. Here we tested the enzymatic activity of four such variants, ... More

关键词

CYP1A1, atypical femoral fractures, bisphosphonates, osteoporosis