Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/181783
Unraveling the spatiotemporal distribution of VPS13A in the mouse brain
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
Loss‐of‐function mutations in the human vacuolar protein sorting the 13 homolog A (VPS13A) gene cause Chorea‐acanthocytosis (ChAc), with selective degeneration of the striatum as the main neuropathologic feature. Very little is known about the VPS13A expression in the brain. The main objective of this work was to assess, for the first time, the spatiotemporal distribution of VPS13A in the mouse brain. We found VPS13A expression present in neurons already in the em‐bryonic stage, with stable levels until adulthood. VPS13A mRNA and protein distributions were similar in the adult mouse brain. We found a widespread VPS13A distribution, with the strongest expression profiles in the pons, hippocampus, and cerebellum. Interestingly, expression was weak in the basal ganglia. VPS13A staining was positive in glutamatergic, GABAergic, and cholinergic neurons, but rarely in glial cells. At the cellular level, VPS13A was mainly located in the soma and neurites, co‐localizing with both the endoplasmic reticulum and mitochondria. However, it was not enriched in dendritic spines or the synaptosomal fraction of cortical neurons. In vivo pharma‐cological modulation of the glutamatergic, dopaminergic or cholinergic systems did not modulate VPS13A concentration in the hippocampus, cerebral cortex, or striatum. These results indicate that VPS13A has remarkable stability in neuronal cells. Understanding the distinct expression pattern of VPS13A can provide relevant information to unravel pathophysiological hallmarks of ChAc.
Matèries
Matèries (anglès)
Citació
Citació
GARCÍA-GARCÍA, Esther, CHAPARRO CABANILLAS, Nerea, COLL MANZANO, Albert, CARRERAS-CABALLÉ, Maria, GIRALT TORROELLA, Albert, DEL TORO, Daniel, ALBERCH I VIÉ, Jordi, MASANA NADAL, Mercè, RODRÍGUEZ ALLUÉ, Manuel josé. Unraveling the spatiotemporal distribution of VPS13A in the mouse brain. _International Journal of Molecular Sciences_. 2021. Vol. 22, núm. 13018. [consulta: 15 de gener de 2026]. ISSN: 1661-6596. [Disponible a: https://hdl.handle.net/2445/181783]