A46 Neurodegenerative markers in hd: association with clinical charactersitcs, triplet expansion, phenoconversion and mediterranean diet adherence

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Huntington’s disease (HD) is an inherited autosomal dominant neurodegenerative disorder. Common pathological molecular mechanisms contributing to HD include reactive oxygen species (ROS), mitochondrial dysfunction and neuro-inflammation.1


Exposure to the Mediterranean Diet (MD) provides neuroprotection and has anti-oxidant and anti-inflammatory properties.2–4 Adherence to the MD could positively influence age of onset and progression of HD.


This is a case-control study, where HD cases, pre-symptomatic, early symptomatic and later stage and age-matched controls will be recruited. Questionnaires will be used to collect data. A blood sample will be collected for untargeted metabolomic investigation into the pathways involved in HD and pathways affected by the MD.


An attempt was made to integrate existing publically available data on HD, to identify pathways which, play a role in disease pathology of HD. Enrichment analysis was performed and seven clusters with pathways involved in HD were obtained.5


Some of the pathways identified through publicly available datasets were cAMP, TGF-beta, Ca2+, and VEGF. These are likely to play a role in contributing to disease pathogenesis of HD.


Given the existing results and those that will emerge from the untargeted metabolomic analysis, we hope to identify pathways that can differentiate between different HD disease stages and whose aberrant changes can be positively influenced by adherence to the MD.

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