Neuron-derived extracellular vesicles in plasma present a potential non-invasive biomarker for Huntingtin protein and RNA assessment in Huntington disease.

ABSTRACT: Huntington disease (HD) is a neurodegenerative disease caused by a trinucleotide repeat expansion in the HTT gene encoding an elongated polyglutamine tract in the huntingtin (HTT) protein. The use of biomarkers has become a major component in preclinical studies focusing on HTT lowering strategies. Quantification of soluble mutant HTT (mHTT) in cerebrospinal fluid (CSF) has served as a pharmacodynamic readout and as potential disease progression biomarker. However, development of future assays for HTT measurement from other biofluids, such as blood, will facilitate the access to human samples since CSF collection is an invasive outpatient procedure. Brain cells, in particular neurons, secrete extracellular vesicles (EVs) that cross the blood-brain barrier and circulate in blood. Importantl

SUBMITTER: Bras IC 

PROVIDER: S-EPMC12330537 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature