Huntington’s disease. Image: Tashatuvango/Shutterstock
A major breakthrough may have been made in the study of life-limiting genetic neurodegenerative condition Huntington’s disease.
Researchers in the US claim to have identified “several” new biological markers in the inherited disorder Huntington’s disease, potentially allowing doctors to measure the progression of the condition.
The study, published in The Journal of Experimental Medicine, will hopefully lead to new clinical trials and ultimately towards better treatments for the illness.
The science behind Huntington’s disease is a gene imperfection, resulting in the production of a mutant form of huntingtin that can aggregate and damage cells, particularly neurons in the striatum and cerebral cortex.
What follows is a progressive loss of voluntary and involuntary movements, with most patients displaying symptoms in their forties and fifties.
Daria Mochly-Rosen and her team at Stanford previously identified a molecule, p110, that can restore mitochondrial function and prevent neuronal death in mouse models with Huntington’s disease.
Huntingtin aggregates (brown) are elevated in skin sections from HD model mice (left). Levels are reduced after treatment with p110 (right). Image: Disatnik et al, 2016
The significance of this relates to one of the earlier events in Huntington’s disease, where the mutant huntingtin disrupts and damages the function of mitochondrial.
Now the researchers have identified more biomarkers, each of which were affected by p110.
“We have identified several biomarkers that correlate with disease progression and treatment in mice,” said Mochly-Rosen, with no definitive evidence yet that these markers correlate to human sufferers of the condition.
“We hope that our work will provide the basis for a larger study of patient samples that may ultimately identify biomarkers that can be used as surrogate markers, to determine the benefit of therapeutic interventions in diagnosed but asymptomatic HD patients to prevent or delay disease onset.”
The study of Huntington’s, as well as Parkinson’s and Alzheimer’s, has been helped by the discovery of nanoscopy in 2000. The discovery was so significant that it won Eric Betzig, Stefan W Hell and William E Moerner the 2014 Nobel prize in chemistry.
