The molecular landscape of neurological disorders: insights from single-cell RNA sequencing in neurology and neurosurgery

European Journal of Medical Research, 2023 · DOI: 10.1186/s40001-023-01504-w · Published: November 3, 2023

Simple Explanation

Single-cell ribonucleic acid sequencing (scRNA-seq) has emerged as a transformative technology in neurological and neurosurgical research, revolutionising our comprehension of complex neurological disorders. In brain tumours, scRNA-seq has provided valuable insights into cancer heterogeneity, the tumour microenvironment, treatment resistance, and invasion patterns. Neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis have been molecularly subtyped, dysregulated pathways have been identified, and potential therapeutic targets have been revealed using scRNA-seq. This review highlights the potential of scRNA-seq in guiding precision medicine approaches, identifying clinical biomarkers, and facilitating therapeutic discovery. Despite these challenges, scRNA-seq has the potential to transform clinical practice in neurological and neurosurgical research by providing personalised insights and improving patient outcomes.

Study Duration

2003-2023

Participants

Not specified

Evidence Level

Review

Key Findings

1
In recurrent glioblastoma multiforme (GBM), scRNA-seq analysis revealed overexpression of stemness and cell-cycle-related genes, decreased microglial proportions, high expression of vascular endothelial growth factor A (VEGF-A), increased blood–brain barrier permeability, and activation of the O6-methylguanine deoxyribonucleic acid (DNA) methyltransferase-related pathway.
2
ScRNA-seq analysis of human dura and primary meningioma samples has provided insights into the immune microenvironment within the dura, the protective membrane surrounding the brain.
3
In AD, scRNA-seq has been instrumental in the molecular subtyping of the disease and identifying novel mechanisms and therapeutic targets.

Research Summary

ScRNA-seq has emerged as a powerful tool that has revolutionised our understanding of neurological disorders, providing high-resolution insights into cellular heterogeneity and gene expression profiles. Its application in neurological tumours, neurodegenerative diseases, and epileptic disorders has resulted in the discovery of novel cell types, disease-specific gene expression changes, and potential therapeutic targets. While scRNA-seq presents certain challenges and limitations, its potential for translation into clinical medicine is promising, paving the way for precision approaches in neurological and neurosurgical research and practice.

Practical Implications

Clinical Biomarkers

scRNA-seq enables the identification of novel biomarkers for neurosurgical diseases, enabling early diagnosis, prognosis assessment, and personalised treatment selection.

Precision Medicine

The application of scRNA-seq in precision medicine approaches holds great promise for personalised therapies in neurosurgical diseases. By identifying dysregulated cellular targets or pathways in individual patients, scRNA-seq can inform the development of targeted therapies tailored to the molecular characteristics of a patient’s disease.

Therapeutic Discovery

scRNA-seq can facilitate the discovery of novel therapeutic targets in neurosurgical diseases by identifying cell populations or specific genes that play crucial roles in disease pathogenesis.

Study Limitations

1
Challenges related to data analysis, standardisation, sample acquisition, scalability, and cost-effectiveness need to be addressed.
2
High dimensionality, sparsity, noise, and scale of scRNA-seq data.
3
Cost, throughput, and sensitivity limitations potentially impact the accuracy and reproducibility of findings.

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