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Biogenesis of mitochondrial respiratory chain complex I: relevance to paediatric neurological disease and pathology
Mitochondria are small structures responsible for producing energy in every cell of the human body, and are essential for cell survival and growth. Mitochondrial diseases affect at least 1 in 5000 children and are genetic disorders leading to mitochondrial dysfunction. They can involve any system of the body, but most commonly affect the brain and neuromuscular system in children, because of the particularly high energy demands of these tissues. The problems faced by patients with mitochondrial disease are severe. Diagnosis is difficult, treatment is largely ineffective, and genetic counselling and prenatal diagnosis are uncertain or unavailable. The prognosis is unpredictable, but these disorders are frequently fatal, especially in young children. The aim of our research is to improve the diagnosis, and ultimately the treatment, of mitochondrial disorders by identifying and studying the genes responsible. This project will focus on the most common subgroup of mitochondrial disorders, namely children with deficiency of complex I. Complex I is the largest enzyme involved in generating energy inside the mitochondrion. We aim to identify disease genes for this condition using the new technique of ‘whole exome next generation sequence analysis’ which examines all 20,000 human genes simultaneously. We will also perform a systematic knockdown of all genes coding for components of the complex I enzyme, and factors needed to assemble complex I properly. This will help us to better understand the pathological processes occurring in the brains of affected children and hopefully this will provide critical insights towards novel therapeutic strategies.
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