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Projects. Life and Earth Sciences

The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model

Lead Researcher: Francesc Palau Martínez
Research Centre: Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.

Abstract: 

Francesc Palau MartínezThe purpose of the project is to test the assumption by that genetic rare disease is related to common disease, of multifactorial origin, by sharing biological processes and pathogenic mechanisms. The overall objective is to explore cellular and molecular mechanisms related to the dysfunction of copper metabolism and mitochondria, ant to determine the common processes in the cellular pathophysiology of three genetic disorders of interest: Menkes and Wilson diseases, caused by mutations in the ATP7A and ATP7B genes, respectively, and Parkinson's disease due to mutations in SCNA (PARK1). To do this, we have proposed to address the following specific objectives: A) Generation of neuronal models of specific clinical mutations from Menkes/ATP7A disease, Wilson/ATP7B disease and PARK1/SCNA disease by genomic edition (CRISPR/Cas9) in hiPSC. B) Comparative analysis of the cellular pathophysiology in each clinical cellular model by investigating mitochondrial pathways and copper metabolism. C) Study of the biology of MAM by analysis of differential protein expression and mitochondria-endoplasmic reticulum interaction. D) To analyze the expression, localization and cellular trafficking of the ATP7A and ATP7B mutant proteins in cellular models. E) In addition, we will set up a Menkes disease Patient's Community based on the RareCommons platform for the study of the disease natural history and the translational and clinical research.


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