El seminario se celebrará el 11 de abril a las 13.00 horas en el Salón de Actos del Centro de Investigación Príncipe Felipe, y será expuesto por la Dra. Aranzazu Bolinches. La entrada será de libre acceso.
Mitochondrial dysfunction has severe consequences at cellular level and it is intimately related with the ageing process. But also, mitochondria play an important role in characteristic progressive cellular death of some neurodegenerative disorders. Mitochondrial dysfunction has emerged as a potential common denominator in various neurodegenerative disorders.We have focused in the study of pathogenic mechanisms that lead to neuronal degeneration of different but related hereditary peripheral neuropathies: Friedreich ataxia (FRDA) and Charcot-Marie-Tooth (CMT) type 4A/2K. Both are neurodegenerative diseases with an axonal peripheral neuropathy as the main feature. And both are caused by a deficit in a mitochondrial protein: frataxin in FRDA and GDAP1 in CMT4A/2K. We have developed a cellular model with frataxin and GDAP1 deficit through gene silencing of respective genes, FXN and GDAP1, in human neuroblastoma SH-SY5Y cell line. Investigation in rare Mendelian disorders is a mean to understand the underlying mechanisms of the disease and mitochondrial role in the cellular pathology.”FOR MORE INFORMATION