000097662 001__ 97662 000097662 005__ 20210118122853.0 000097662 037__ $$aTAZ-TFM-2020-258 000097662 041__ $$aeng 000097662 1001_ $$aPolanco Irisarri, David 000097662 24200 $$aCurrent treatments for MECP2 Duplication Syndrome 000097662 24500 $$aTratamientos actuales para el Síndrome de Duplicación de MECP2 000097662 260__ $$aZaragoza$$bUniversidad de Zaragoza$$c2020 000097662 506__ $$aby-nc-sa$$bCreative Commons$$c3.0$$uhttp://creativecommons.org/licenses/by-nc-sa/3.0/ 000097662 520__ $$aMethyl-CpG-binding protein 2 (MeCP2) is a small, intrinsically disordered protein which has a role in gene activation and repression, and chromatin compaction. When MECP2 gene, located in the X chromosome, suffers a duplication, MeCP2 expression increases, leading to the outbreak of seizures, hypotonia, autistic features and respiratory infections. This disorder is known as MECP2 Duplication Syndrome (M2DS).<br />The aim of this Master’s thesis is to gather all the existing drug trials and auxiliar treatments for M2DS.<br />The search returned 10 cases of drug trials (6 performed on humans, 1 on human iPSCs and 3 on M2DS mouse models). Anticonvulsants are the most frequently prescribed drugs on young patients, although antisense oligonucleotides (ASOs) and CRISPR-Cas9 gene editing are being developed in preclinic studies. The main auxiliar therapies found for M2DS were occupational, physical and speech therapy.<br />Valproic acid (VPA) is the most used anticonvulsant for the treatment of seizures in children with M2DS, but other drugs have also proven to be effective, such as lamotrigine (LTG) and topiramate (TPM). The screening of small compounds able to destabilize the MeCP2-DNA union could also be a fruitful source of long-term drugs against M2DS. Auxiliar therapies will continue to be imperative until a full phenotype reversal can be achieved in human patients via gene editing.<br /><br /> 000097662 521__ $$aMáster Universitario en Biotecnología Cuantitativa 000097662 540__ $$aDerechos regulados por licencia Creative Commons 000097662 700__ $$aVelázquez Campoy, Adrián$$edir. 000097662 700__ $$aAbián Franco, Olga$$edir. 000097662 700__ $$aOrtega Alarcón, David$$edir. 000097662 7102_ $$aUniversidad de Zaragoza$$b $$c 000097662 8560_ $$f697534@unizar.es 000097662 8564_ $$s462128$$uhttps://zaguan.unizar.es/record/97662/files/TAZ-TFM-2020-258.pdf$$yMemoria (eng) 000097662 909CO $$ooai:zaguan.unizar.es:97662$$pdriver$$ptrabajos-fin-master 000097662 950__ $$a 000097662 951__ $$adeposita:2021-01-18 000097662 980__ $$aTAZ$$bTFM$$cCIEN 000097662 999__ $$a20200626124244.CREATION_DATE