Ageing Res Rev 2018 Mar 5;42:1-13. Epub 2017 Dec 5.
CNR Institute of Molecular Genetics, Unit of Bologna, Via di Barbiano 1/10, I-40136, Bologna, Italy; Rizzoli Orthopedic Institute, Via di Barbiano 1/10, I-40136, Bologna, Italy. Electronic address:
Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone abnormalities including localized osteolysis and generalized osteoporosis, skin pigmentation, lipodystrophic signs and mildly accelerated ageing. The molecular defects associated with MAD are mutations in LMNA or ZMPSTE24 (FACE1) gene, causing type A or type B MAD, respectively. Downstream of LMNA or ZMPSTE24 mutations, the lamin A precursor, prelamin A, is accumulated in cells and affects chromatin dynamics and stress response. Read More