AI Article Synopsis
- Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder linked to mutations in the VPS13A gene, which produces a protein called chorein.
- In this study, researchers developed an antibody to detect chorein's expression in mice, finding that it was significantly present in organs like the testis, kidney, spleen, and brain, with specific localization patterns in the brain's neuronal regions.
- These findings enhance our understanding of chorein's role in the body and may help in uncovering the underlying mechanisms of ChAc.
Article Abstract
Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this study, we produced an antibody against chorein and examined its protein-level expression and localization in mouse. Immunoblot analysis revealed that chorein was expressed in a gene dose-dependent manner in the VPS13A deletion-mice that we recently developed, which confirms the sensitivity of the antibody. Chorein was highly expressed in testis, kidney, spleen, and brain, and was expressed ubiquitously in various brain regions. Subcellular analysis of the brain showed high levels of chorein in microsomal and synaptosomal fractions. Immunohistochemically, chorein-like immunoreactivity was ubiquitously observed in the brain in the neuronal perinuclear region, cytoplasm and fibers. In testis and kidney, clear cell-specific patterns of chorein-like immunoreactivity were detected. Our findings provide basic information on chorein in vivo and may contribute to taking the first step toward understanding molecular pathogenesis of ChAc.
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| http://dx.doi.org/10.1016/j.bbrc.2006.12.059 | DOI Listing |
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Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene encoding chorein. Although a deficiency in chorein function leads to apoptosis of striatal neurons in ChAc model mouse, its detailed subcellular localization and physiological role remain unclear. In this study, we produced two anti-chorein polyclonal antibodies and examined the intracellular localization of endogenous chorein in neuronal cells.
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