Lamins and bone disorders: current understanding and perspectives
| Autor: | Chiara Gargiuli, Maria Rosaria D'Apice, Marta Columbaro, Tiziana Greggi, Giuseppe Novelli, Elisa Schena, Elisabetta Mattioli, Giovanna Lattanzi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
hutchinson-gilford progeria syndrome (HGPS) Osteolysis bone turnover mandibuloacral dysplasia (MADA MADB) LMNA-related congenital muscular dystrophy (L-CMD) lamin A/C Osteoporosis Laminopathy Review Bioinformatics Bone remodeling LMNA 03 medical and health sciences medicine mandibuloacral dysplasia (MADA business.industry MADB) medicine.disease 030104 developmental biology Settore MED/03 Oncology Congenital muscular dystrophy Restrictive dermopathy business Lamin |
| Zdroj: | Oncotarget |
| ISSN: | 1949-2553 |
| Popis: | Lamin A/C is a major constituent of the nuclear lamina implicated in a number of genetic diseases, collectively known as laminopathies. The most severe forms of laminopathies feature, among other symptoms, congenital scoliosis, osteoporosis, osteolysis or delayed cranial ossification. Importantly, specific bone districts are typically affected in laminopathies. Spine is severely affected in LMNA-linked congenital muscular dystrophy. Mandible, terminal phalanges and clavicles undergo osteolytic processes in progeroid laminopathies and Restrictive Dermopathy, a lethal developmental laminopathy. This specificity suggests that lamin A/C regulates fine mechanisms of bone turnover, as supported by data showing that lamin A/C mutations activate non-canonical pathways of osteoclastogenesis, as the one dependent on TGF beta 2. Here, we review current knowledge on laminopathies affecting bone and LMNA involvement in bone turnover and highlight lamin-dependent mechanisms causing bone disorders. This knowledge can be exploited to identify new therapeutic approaches not only for laminopathies, but also for other rare diseases featuring bone abnormalities. |
| Databáze: | OpenAIRE |
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