EMBO fellowship for Jessica Nouws

Nouws , Jessica

Jessica Nouws received an EMBO-fellowship December 2012 Jessica Nouws, a PhD student in Leo Nijtmans group (Dept. Paediatrics, IGMD, NCMLS, Energy & Redox Metabolism) received a 2 year long-term EMBO-fellowship to conduct her project: "Dissecting the mechanism of mitochondrial stress induced deafness". She will perform this researchproject in the group of Professor Gerald Shadel at Yale School of Medicine (New Haven, Connecticut, USA). Mitochondrial dysfunction may result in metabolic disorders due to lack in energy. However, recent research shows that mitochondrial dysfunction can underlie other, common, diseases such as cancer, Diabetes, Alzheimer's, and Parkinson's disease, and age-related pathology. Finally, mitochondria can cause inherited forms of deafness that mirror the pathology of normal age-related hearing loss, which are the major focus of this proposal. The processes inside mitochondria are driven by two sets of DNA, the nuclear genome and mitochondrial DNA or mtDNA. A major hurdle in understanding mitochondrial diseases is the current inability to introduce and analyze disease-causing mtDNA mutations into mice to model human pathology. The most common "models" are limited in that they are not the cell types affected by disease and are out of the context of normal whole body physiology. Furthermore, mtDNA mutations often affect specific tissues and organs. A common pathogenic mtDNA mutation, termed A1555G, also results in tissue-specific pathogenicity that leads to deafness. The mouse model used in this project mimics this deafness mtDNA mutation and provides the opportunity to study the pathogenic mechanism underlying inherited mitochondrial hearing loss. This project aims to test how environmental factors worsen this disease, and explore the tissue-specificity of human mitochondrial-based disorders in general.

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