Detecting Huntington's disease using naturally occurring compounds in the breath
Identify volatile organic compounds (VOCs) from exhaled breath for early diagnosis of Huntington’s disease (HD) using a sheep model.
Huntington’s disease (HD) is a progressive, fatal, neurodegenerative disorder, similar to Alzheimer’s disease, Parkinson’s disease, Friedreich ataxia and amyotrophic lateral sclerosis.
Huntington’s disease is caused by a genetic mutation within the human Huntingtin gene. Development of HD is primarily attributed to progressive loss of cells within the brain, resulting in dementia and motor impairment.
Current diagnostic methods such as biopsy, magnetic resonance imaging (MRI) and positron emission tomography (PET) scans are not only costly and invasive, but they are also unable to detect subtle changes associated with HD development prior to the onset of brain degradation.
Therefore, further work is necessary to develop alternative HD diagnostic methods that are able to detect HD at its earliest stages and determine the efficacy of therapeutics in large animal models before treatments can be applied to human patients.
Huntington’s disease-causing mutant proteins are expressed in almost all cells, and are known to disrupt mitochondrial functions and cellular energy metabolism.
Breath testing is a sensitive analysis method that could be applied as a new method for HD diagnosis to evaluate chemical compounds and reactive oxygen species (ROS) in the breath arising from cellular biological processes associated with HD.