NEGE will focus on the research of mitochondrial diseases and of genetic malformations of the brain.
Deficiencies of oxidative phosphorylation are at the basis of a heterogeneous group of hereditary disorders, better known as mitochondrial cytopathies. The incidence was long underestimated, but the morbidity and mortality of these conditions have an important impact on public health.
Hundreds of proteins involved in the formation and functioning of these five enzymatic complexes are under dual genetic control, but there is no unambiguous correlation between phenotype and genotype. Although many mitochondrial and nuclear mutations have been identified during the last thirty years, these aspects hypothesize the confirmation of clinical diagnosis via biochemical and molecular research in a large patient population.
With the development of new and expanding existing analytical methods, this research group wants to detect the causal underlying mechanisms of isolated and combined complex deficiencies.
Hereditary brain deprivations such as lissencephaly, polymicrogyria and heterotopy are a major cause of mental and motor disability, severe epilepsy, learning disorders and autism. The etiology and repetition risk are largely unknown and the Treatment is purely symptomatic. The work of the research group is aimed at identifying new genes involved in the development of brain defects and the Genotype-phenotype correlations to optimize diagnostics and genetic counseling. The study of the function of new genes involved in the development of brain defects gives the opportunity to further elucidate the mechanisms underlying normal brain development.