Molecular genetics of inherited, neurodegenerative disorders, especially Huntington disease. Investigations of genetic and cellular factors influencing the pathological mechanism and disease progression. Basal DNA-techniques (PCR, DNA-sequencing, cloning etc.), basal RNA-techniques (p-PCR), protein analysis (western blotting), cell culture, in vitro expression (transfection, viral transduction), animal experiments.
In the Nørremølle research group our goal is to understand the pathogenic mechanisms causing the cellular damage in inherited neurodegenerative disorders, with specific focus on Huntington disease. In this disease, despite a well-characterized disease-causing mutation, neither the physiological functions nor the mechanisms behind the pathological changes are known. Right now we concentrate on investigating the metabolic changes observed in both neuronal and non-neuronal cell types in Huntington disease cell and animal models. We study mitochondrial function and oxidative stress in order to understand the importance of these processes in the disease, and aiming to characterize new targets for future treatment strategies.
In another line of research, we analyze the DNA sequence of the huntingtin gene region in Danish patients with Huntington disease, looking for DNA variants that modify the disease onset or progression. The rationale is that genes carrying these variants represent possible targets for treatment: modifying the modifiers. In addition to our work in Huntington disease research we participate in collaborations investigating other inherited neurodegenerative disorders.