Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.

ABSTRACT: Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies have described several potential roles for spatacsin, including its involvement in lysosome and autophagy mechanisms, neuronal and neurites development or mitochondria function. Despite these findings, the precise function of the spatacsin protein remains elusive. To elucidate its function, we conducted an extensive RNA sequencing (RNAseq) experiment and transcriptomic analysis in three distinct neural structures (cerebellum, cortex and hippocampus) and at three different ages (6 weeks, 4 month

SUBMITTER: Toupenet Marchesi L 

PROVIDER: S-EPMC11743199 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature