What, When and How to Measure-Peripheral Biomarkers in Therapy of Huntington's Disease

• Published in: International journal of molecular sciences 2021-02, Vol.22 (4), p.1561
• Main Authors: Przybyl, Lukasz, Wozna-Wysocka, Magdalena, Kozlowska, Emilia, Fiszer, Agnieszka
• Format: Article
• Language: English
• Subjects: Atrophy; Biomarkers; Central nervous system; Clinical Decision-Making; Clinical trials; Disease; Disease Management; Disease Progression; Gene expression; Humans; Huntingtin Protein - genetics; Huntingtin Protein - metabolism; Huntington Disease - diagnosis; Huntington Disease - etiology; Huntington Disease - metabolism; Huntington Disease - therapy; Huntington's disease; Huntingtons disease; immune; Immune system; Inflammation; Metabolism; microbiome; Mutation; Nervous system; Neurodegeneration; Oxidative Stress; Pathology; periphery; Prognosis; Proteins; Review; RNA, Messenger - metabolism; Signs and symptoms; therapy
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms22041561

Among the main challenges in further advancing therapeutic strategies for Huntington's disease (HD) is the development of biomarkers which must be applied to assess the efficiency of the treatment. HD is a dreadful neurodegenerative disorder which has its source of pathogenesis in the central nervous system (CNS) but is reflected by symptoms in the periphery. Visible symptoms include motor deficits and slight changes in peripheral tissues, which can be used as hallmarks for prognosis of the course of HD, e.g., the onset of the disease symptoms. Knowing how the pathology develops in the context of whole organisms is crucial for the development of therapy which would be the most beneficial for patients, as well as for proposing appropriate biomarkers to monitor disease progression and/or efficiency of treatment. We focus here on molecular peripheral biomarkers which could be used as a measurable outcome of potential therapy. We present and discuss a list of wet biomarkers which have been proposed in recent years to measure pre- and postsymptomatic HD. Interestingly, investigation of peripheral biomarkers in HD can unravel new aspects of the disease pathogenesis. This especially refers to inflammatory proteins or specific immune cells which attract scientific attention in neurodegenerative disorders.