Descrição:
Single-cell RNA analysis applied to Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS), which has a complex etiology involving genetic and structural factors, provided precise insights into the disease's pathophysiology. For example, it helped understand how a key molecule like RNA behaves over time, shedding light on the progressive nature of MTLE-HS. Single-cell RNA sequencing (scRNA-seq) using the 10x Genomics platform provides detailed transcriptomic profiling of individual cells within complex tissues. This method typically produces three primary files: a count matrix (matrix.mtx), a feature file (features.tsv or genes.tsv), and a barcode file (barcodes.tsv). The count matrix records gene expression levels through UMI counts for each gene in each cell. The feature file lists the detected genes or transcripts, and the barcode file contains unique identifiers for each captured cell. Collectively, these files enable the reconstruction of the gene expression landscape at a single-cell level, supporting analyses such as cell clustering, cell type identification, and exploration of transcriptional heterogeneity across cellular populations. The findings from this thesis will contribute to enriching human brain reference atlases, such as the Human Cell Atlas initiative. This includes mapping cell types in brain tissue affected by the disease and adding valuable data from patients with Brazilian genetics, which is currently underrepresented in global databases and scientific literature.