Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures.

ABSTRACT: Atypical femoral fractures (AFFs) are uncommon and often related to prolonged bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue nonspecific alkaline phosphatase (ALPL). Moreover, mutations in the geranylgeranyl pyrophosphate synthase (GGPPS) gene, which can be inhibited by BPs, and in the enzyme of the cytochrome P450 superfamily (CYP1A1), related to the metabolism of several drugs, have also been associated with AFF development. Our aim was to analyze the incidence of ALPL, GGPS1, and CYP1A1 gene mutations in patients with AFFs and their clinical characteristics. Seventeen women with AAFs were included. All patients underwent Sanger sequencing of the ALPL, GGPS1, and CYP1A1 genes, analyzing the presence of mutations and polymorphisms in these genes. The

SUBMITTER: Peris P 

PROVIDER: S-EPMC6339546 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature