Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

862382.pdf (6.31 MB)

Document type

Article

Version

Published version

Publication date

2024-06-05

Publication license

cc-by (c) García García, Esther et al., 2024
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/222754

Preserved VPS13A distribution and expression in Huntington’s disease: Divergent mechanisms of action for similar movement disorders?

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

https://doi.org/10.3389/fnins.2024.1394478

Abstract

VPS13A disease and Huntington’s disease (HD) are two basal ganglia disorders that may be difficult to distinguish clinically because they have similar symptoms, neuropathological features, and cellular dysfunctions with selective degeneration of the medium spiny neurons of the striatum. However, their etiology is different. VPS13A disease is caused by a mutation in the VPS13A gene leading to a lack of protein in the cells, while HD is due to an expansion of CAG repeat in the huntingtin (Htt) gene, leading to aberrant accumulation of mutant Htt. Considering the similarities of both diseases regarding the selective degeneration of striatal medium spiny neurons, the involvement of VPS13A in the molecular mechanisms of HD pathophysiology cannot be discarded. We analyzed the VPS13A distribution in the striatum, cortex, hippocampus, and cerebellum of a transgenic mouse model of HD. We also quantified the VPS13A levels in the human cortex and putamen nucleus; and compared data on mutant Htt-induced changes in VPS13A expression from differential expression datasets. We found that VPS13A brain distribution or expression was unaltered in most situations with a decrease in the putamen of HD patients and small mRNA changes in the striatum and cerebellum of HD mice. We concluded that the selective susceptibility of the striatum in VPS13A disease and HD may be a consequence of disturbances in different cellular processes with convergent molecular mechanisms already to be elucidated.

Subject

Ganglis basals, Trastorns motors, Malalties neurodegeneratives

Subject (English)

Basal ganglia, Movement disorders, Neurodegenerative Diseases

Citation

Collections

Articles publicats en revistes (Biomedicina)

Citation

GARCÍA GARCÍA, Esther, et al. Preserved VPS13A distribution and expression in Huntington’s disease: Divergent mechanisms of action for similar movement disorders?. Frontiers in Neuroscience. 2024. Vol. 18. ISSN 1662-4548. [consulted: 16 of August of 2026]. Available at: https://hdl.handle.net/2445/222754

Export metadata

JSON - METS

Share record