ArticleFrontiers in cell and developmental biology2023
Perturbed actin cap as a new personalized biomarker in primary fibroblasts of Huntington's disease patients.
Article in Frontiers in cell and developmental biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Nuclear Mechanotransduction at the Crossroads: How Membrane Receptors Remodel the Perinuclear Cytoskeleton to Drive Cancer and Disease.International journal of biological sciences · 2026Review
- Exploring the skin as an open window onto neurodegenerative diseases.Translational neurodegeneration · 2025Review
- High-dimensional phenotyping to define the genetic basis of cellular morphology.Nature communications · 2024Article
- Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets.Frontiers in molecular neuroscience · 2024Article
- Metabolomics: An Emerging "Omics" Platform for Systems Biology and Its Implications for Huntington Disease Research.Metabolites · 2023Review
- Article
- Functional Characterisation of the Circular RNA,Cells · 2023Article
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Authors and funding
12 authors at 2 institutions in 1 country.
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Abstract
Primary fibroblasts from patient's skin biopsies are directly isolated without any alteration in the genome, retaining in culture conditions their endogenous cellular characteristics and biochemical properties. The aim of this study was to identify a distinctive cell phenotype for potential drug evaluation in fibroblasts from Huntington's Disease (HD) patients, using image-based high content analysis. We show that HD fibroblasts have a distinctive nuclear morphology associated with a nuclear actin cap deficiency. This in turn affects cell motility in a similar manner to fibroblasts from Hutchinson-Gilford progeria syndrome (HGPS) patients used as known actin cap deficient cells. Moreover, treatment of the HD cells with either Latrunculin B, used to disrupt actin cap formation, or the antioxidant agent Mitoquinone, used to improve mitochondrial activity, show expected opposite effects on actin cap associated morphological features and cell motility. Deep data analysis allows strong cluster classification within HD cells according to patients' disease severity score which is distinct from HGPS and matching controls supporting that actin cap is a biomarker in HD patients' cells correlated with HD severity status that could be modulated by pharmacological agents as tool for personalized drug evaluation.
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