Exploring Biomarkers for Huntington’s Disease

Abstract

Huntington’s disease (HD) is a progressive, non-curative, autosomal dominant neurodegenerative disease characterized by prominent psychiatric problems, as well as progressive deterioration in both cognitive function and motor control. The success of therapeutic interventions in HD patients cannot be easily examined without reliable and practical measurements by using effective biomarkers. Many clinical trials have been held to evaluate biomarkers efficacies in disease-modifying treatment before the manifestation of the disease or its severity. Biofluid (wet) biomarkers have potential advantages of direct quantification of biological processes at the molecular level, imaging biomarkers, on the other hand, can quantify related changes at a structural level in the brain. The most robust biofluid and imaging biomarkers are being investigated for their clinical use and development of future treatment and can offer complementary information, providing a more comprehensive evaluation of disease stage and progression.

Metabolomic Footprint of Disrupted Energetics and Amino Acid Metabolism in Neurodegenerative Diseases: Perspectives for Early Diagnosis and Monitoring of Therapy

“…Moreover, besides alanine, another amino acid, serine levels might reflect neuronal cell degradation. The concentration of this amino acid participates directly or indirectly in the changes associated with HD pathogenesis, meaning that its fluctuating level may help to monitor disease progression [ 197 , 205 ].…”