Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders

Latest findings on Wilson's disease research

Ana Sánchez-Monteagudo, PhD student, presented her last findings on the research focused on Wilson's disease (WD) at the VI Bioinformatics Student Symposium held in Madrid (October 17th, 2019). The clinical series comprised 26 index cases and 22 carried biallelic mutations in ATP7B. However, in two affected siblings, mutations were detected in CCDC115 and therefore, they suffered from a congenital defect of glycosylation. Two unrelated patients remain without genetic diagnosis. Moreover, a miRNA-seq profiling was performed in plasma samples of 20 WD patients and matched healthy controls. Differential expression analysis revealed 12 deregulated miRNAs whose target genes participate in pathways related to toxicity and response to liver injury.

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