| Autor: |
García-Mato Á; Institute for Biomedical Research 'Alberto Sols' (IIBm), Spanish National Research Council-Autonomous University of Madrid (CSIC-UAM), 28029 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), CIBER, Carlos III Institute of Health, 28029 Madrid, Spain., Cervantes B; Institute for Biomedical Research 'Alberto Sols' (IIBm), Spanish National Research Council-Autonomous University of Madrid (CSIC-UAM), 28029 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), CIBER, Carlos III Institute of Health, 28029 Madrid, Spain., Murillo-Cuesta S; Institute for Biomedical Research 'Alberto Sols' (IIBm), Spanish National Research Council-Autonomous University of Madrid (CSIC-UAM), 28029 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), CIBER, Carlos III Institute of Health, 28029 Madrid, Spain.; La Paz Hospital Institute for Health Research (IdiPAZ), 28046 Madrid, Spain., Rodríguez-de la Rosa L; Rare Diseases Networking Biomedical Research Centre (CIBERER), CIBER, Carlos III Institute of Health, 28029 Madrid, Spain.; La Paz Hospital Institute for Health Research (IdiPAZ), 28046 Madrid, Spain., Varela-Nieto I; Institute for Biomedical Research 'Alberto Sols' (IIBm), Spanish National Research Council-Autonomous University of Madrid (CSIC-UAM), 28029 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), CIBER, Carlos III Institute of Health, 28029 Madrid, Spain.; La Paz Hospital Institute for Health Research (IdiPAZ), 28046 Madrid, Spain. |
| Abstrakt: |
Insulin-like growth factor 1 (IGF-1) is a peptide hormone belonging to the insulin family of proteins. Almost all of the biological effects of IGF-1 are mediated through binding to its high-affinity tyrosine kinase receptor (IGF1R), a transmembrane receptor belonging to the insulin receptor family. Factors, receptors and IGF-binding proteins form the IGF system, which has multiple roles in mammalian development, adult tissue homeostasis, and aging. Consequently, mutations in genes of the IGF system, including downstream intracellular targets, underlie multiple common pathologies and are associated with multiple rare human diseases. Here we review the contribution of the IGF system to our understanding of the molecular and genetic basis of human hearing loss by describing, (i) the expression patterns of the IGF system in the mammalian inner ear; (ii) downstream signaling of IGF-1 in the hearing organ; (iii) mouse mutations in the IGF system, including upstream regulators and downstream targets of IGF-1 that inform cochlear pathophysiology; and (iv) human mutations in these genes causing hearing loss. |
