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Caracterización de las bases moleculares de neuropatías hereditarias sensitivo-motoras

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Caracterización de las bases moleculares de neuropatías hereditarias sensitivo-motoras

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dc.contributor.advisor Murguía Ibáñez, José Ramón es_ES
dc.contributor.advisor ESPINOS ARMERO, CARMEN es_ES
dc.contributor.author Schlemeyer, Tabea es_ES
dc.date.accessioned 2016-11-03T13:04:08Z
dc.date.available 2016-11-03T13:04:08Z
dc.date.created 2015-09-24
dc.date.issued 2016-11-03
dc.identifier.uri http://hdl.handle.net/10251/73220
dc.description.abstract [EN] Inherited peripheral neuropathies comprise a large group of related diseases primarily affecting the peripheral nervous system. They include the hereditary motor neuropathies (HMN), the hereditary sensory neuropathies (HSN) and the hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth (CMT) disease. CMT affects approximately one in 2500 people and is characterized by a wide genetic heterogeneity: more than 40 are associated with this group of neuropathies. The aim of this work is to identify the molecular bases of the patients with CMT/HMN belonging to the families fCMT-424 and fCMT-411, using Whole Exome Sequencing (WES). To achieve this, we filtered the obtained data, searching for candidate genes that could cause the CMT/HMN phenotypes. In family fCMT-424, we identified the p.N88S mutation in the BSCL2 gene. This mutation has been previously described as a pathological change. In family fCMT-411, we detected the novel p.Q434H variant in the MFSD1 gene. We further performed a search for the MFSD1 p.Q434H mutation in families that remain without genetic diagnosis and we did not identify other CMT patients who carry this mutation. To gain an insight into the pathogenicity of this change, we carried out a study of silencing and overexpression of the MFSD1 gene in Drosophila melanogaster. The findings showed that neither the silencing nor the overexpression modify the external phenotype, although the silencing can alter the capacity of climbing of the transgenic flies, suggesting that the absence of MFSD1 could be involved in a motor deficit. es_ES
dc.format.extent 46 es_ES
dc.language Español es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject MFSD1 es_ES
dc.subject Familia fCMT–411 es_ES
dc.subject CMT/HMN es_ES
dc.subject.classification BIOQUIMICA Y BIOLOGIA MOLECULAR es_ES
dc.subject.other Máster Universitario en Biotecnología Biomédica-Màster Universitari en Biotecnologia Biomèdica es_ES
dc.title Caracterización de las bases moleculares de neuropatías hereditarias sensitivo-motoras es_ES
dc.type Tesis de máster es_ES
dc.rights.accessRights Cerrado es_ES
dc.contributor.affiliation Universitat Politècnica de València. Servicio de Alumnado - Servei d'Alumnat es_ES
dc.description.bibliographicCitation Schlemeyer, T. (2015). Caracterización de las bases moleculares de neuropatías hereditarias sensitivo-motoras. http://hdl.handle.net/10251/73220. es_ES
dc.description.accrualMethod Archivo delegado es_ES


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