Gens i migranya. Anàlisi mutacional i estudis d'associació en pacients

• Autores: Cèlia Sintas Vives
• Directores de la Tesis: Bru Cormand Rifa (dir. tes.)
• Lectura: En la Universitat de Barcelona ( España ) en 2015
• Idioma: catalán
• Tribunal Calificador de la Tesis: Susana Balcells Comas (presid.), Marta Ribases Haro (secret.), Raquel Rabionet Janssen (voc.)
• Materias:
  • Ciencias de la vida
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en:  Dipòsit Digital de la UB  TDX 
• Resumen

  • ABSTRACT Migraine is a common neurological disorder that affects 15% of the population. It¿s caractherized by reccurent and inhabilitating episodes of headache, often accompanied by other symptoms like photophobia, nauseas or vomiting. The prevalence of migraine is dependent on sex and age, being more frequent in adolescent and adult women. Clinically, migraine is classified in two subtypes, with and without aura, the first characterized by the appearance of neurological disturbances that preceede or accompany the migraine episode. Common migraine presents a complex ethiology, in which both genetic and environmental factors are involved. Moreover, there is a monogenic form of the disease, hemiplegic migraine, which genetic bases are known in part. This rare form of migraine turns into a good starting point to address the study of common forms of migraine. In this Thesis we have studied the genetic factors that underlie both common and rare migraine, in patients with and without aura. We have performed mutational screening, based on sequencing and CNV analysis, in patients with hemiplegic migraine and other related paroxystic disorders that have allowed the identification of several causal mutations. Moreover, case-control association studies have been performed, at both genome-wide level or on candidate genes, in order to detect risk variants for common migraine. Among the different candidates assessed, we have focused our attention mainly on microRNAs, important gene expression regulatory molecules that had not been previously explored in migraine patients. Finally, we present the preliminary results of a transcriptomic study in a rat model of cortical spreading depression.