CORDIS Project
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The MITOBIOPATH project aims to uncover new pathways in mitochondrial DNA metabolism linked to diseases in children. It employs whole exome sequencing and functional studies in cellular and animal models to understand the mechanisms behind mitochondrial disorders and their genetic basis.
Defects of mitochondrial DNA (mtDNA) metabolism (maintenance, integrity and expression) are the most common cause of multiple mitochondrial respiratory chain (MRC) defects in children.
Several new disease genes have been identified in these complex pathways but the functional link between mutant protein and mtDNA metabolism is unknown or poorly understood.
Example of the latter is FBXL4 (F-box and leucine-rich repeat protein 4) gene, mutations of which have been recently found in 28 patients wit…
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