Huntington´s disease as a whole body disease

Maria Björkqvist leads the Brain Disease Biomarker Unit, Department of Experimental Medical Sciences, Faculty of Medicine, Lund University. Maria Björkqvist is professor in pharmacology.

Today, there is no disease modifying treatment for Huntington’s disease (HD). Pathology in HD is not limited to the brain. The causative gene (mutated huntingtin) is widely expressed throughout the body and HD manifests with alterations in skeletal muscle, endocrine organs and adipose tissue. Similar to HD patients, transgenic HD mice loose weight progressively and HD is associated with an early catabolic state. A higher BMI has been shown to be linked to a slower progression in HD: why is unknown. Alterations in energy metabolism, has long been associated with ageing and neurodegeneration. Our recent data show that white adipose tissue and skeletal muscle alterations largely contribute to metabolic HD alterations, making these tissues interesting targets for disease modifying purposes in HD. Studies in animals have shown that central pathology in HD is susceptible to modulation by treatments that target tissues and organs outside CNS, further supporting modulation of peripheral targets as new therapeutic approaches in HD.

The research group is working with the overriding hypothesis that that targeting peripheral pathology linked to energy metabolism in HD, will ameliorate pathology in HD, central and peripheral, and slow down disease progression. We further hypothesize that peripheral tissue, such as skeletal muscle, adipose tissue and myeloid cells contributes to the catabolic state in HD and provides useful models with which to investigate molecular pathways important for HD.

The overriding aim is to increase understanding of HD specific molecular changes and provide markers of disease progression and novel therapeutic targets.

The research group is supported by Swedish Research Council.