Biomarkers Predict the Course Of Huntington's Disease

Protein changes that occur over time in patients with Huntington's disease (HD) and asymptomatic people who carry the disease mutation are revealed in a new two-year longitudinal study by Filipe Rodrigues and colleagues. Huntington’s disease (HD) is a neurodegenerative disorder caused by repeats of cytosine-adenine-guanine (CAG) in the Huntingtin (HTT) gene. It is characterized by progressive breakdown of brain cells, which leads to uncontrolled movements, loss of cognitive function, and mental illness.

The Biomarkers in Huntington's Disease :

Currently, there is no cure or disease slowing therapies for HD. The dynamics of these disease markers might help clinicians develop tools to predict the course of Huntington's disease and to evaluate new therapeutics in clinical trials.

Targeting the protein mutant huntingtin (mHTT) or another disease-linked protein named neurofilament light (NfL), may help prevent the disease in asymptomatic people who only carry the gene mutation. However the exact changes in concentrations of these proteins during the disease progression are unclear.

The team collected the plasma and cerebrospinal fluid samples from 20 controls, 20 mutation carriers, and 40 patients with Huntington's disease and longitudinally measured mHTT and NfL over two years. It was found that levels of NfL were significantly higher with a different pattern in people with the mutation as compared with controls.

Also, the patients with the highest baseline levels of mHTT and NfL at the start of the study showed a faster progression and more severe brain atrophy after two years.

Advertisement

"These insights will be of immediate value in the design and conduct of disease-modifying clinical trials, especially as we enter the era of prevention trials where qualified surrogate endpoints will be fundamental," the authors concluded.

Source-Medindia