Researchers from Boston University School of Medicine (MA, USA), have identified a novel indicator molecule that may be utilized as a biomarker for Huntington’s disease (HD) in individuals who are carriers but not yet sufferers.
The team examined cerebrospinal fluid from 30 individuals who were carriers of the mutated huntingtin gene but not yet exhibiting symptoms. Previous studies have suggested that disease-specific forms of microRNAs (miRNAs) can be detected in the cerebrospinal fluid of Parkinson’s and Alzheimer’s disease patients, hence the team sought to address the question of whether these molecules may hold answers relevant to HD diagnosis.
The researchers were able to detect altered levels of microRNA (miRNAs) in individuals as early as 20 years prior to the expected onset of symptoms. Of over 2000 miRNAs observed, 25 of them displayed upregulated expression in HD, with a further 14 exhibiting a greater than twofold change in expression when compared with controls.
Significantly, miRNAs were detected in the prodromal HD individuals furthest from diagnosis, a stage where treatments are likely to have the most effect. Therefore, detection of these molecules may help to delay disease progression and enhance quality of life for carriers and sufferers alike.
Further work by the team aims to expand upon these results with more diverse cohorts to determine if factors such as age, ethnicity or sex have any influence on levels of diagnostic miRNAs.
Sources: Reed ER, Latourelle JC, Bockholt JH et al. MicroRNAs in CSF as prodromal biomarkers for Huntington disease in the PREDICT-HD study. Neurology doi.org/10.1212/WNL.0000000000004844 (2017 ) (Epub ahead of print);