ID 39. Adaptación y protección mecánica en la célula muscular: un nuevo paradigma en miopatías vacuolares congénitas
- Línea de investigación
- Mecanismos moleculares de enfermedades raras.
- Título
- Adaptación y protección mecánica en la célula muscular: un nuevo paradigma en miopatías vacuolares congénitas.
- Descripción
- PLIN4-associated distal myopathy (ORPHA:696063) is a very rare autosomal dominant congenital disease, whereby nucleotide repeat expansions mapping to the amphipatic helix (AH) domain of the PLIN4 gene yield an aberrant protein that is retained in the sarcoplasmic membrane, correlating with vacuolar formations that accrue protein turnover machineries. The resulting clinical manifestations of distal muscle weakness and atrophy develop progressively and usually appear in adulthood. The physiopathological mechanisms involved in this disorder are incompletely understood, partly because the physiological regulation and function of PLIN4, the least studied perilipin among the 5 existing paralogs in humans, also remain very poorly characterized. Combining biophysical, cell biology and omics approaches with molecular biology tools exactly mimicking the mutations shown by these patients, this project will allow us to explore in detail the hypothesis that PLIN4 transduces mechanical information from the myocyte sarcolemma..
- Tutor
- Miguel Sánchez Álvarez.
- Centro
- Instituto de Investigaciones Biomédicas Sols-Morreale (IIBM).
- Contacto
- msalvarez@siib.uam.es
- Número de plazas ofertadas
- 1.