Transcriptional Profile of the Developing Subthalamic Nucleus

Scientific paper - Review paper

• Author: Ema Bokulić
• Author: Tila Medenica
• Author: Goran Sedmak
• Author's institution: University of Zagreb; School of Medicine; (Croatian Institiute for Brain Research)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Neuroscience

Abstract (english)

The subthalamic nucleus (STN) is a small, excitatory nucleus that regulates the output of basal ganglia motor circuits. The functions of the STN and its role in the pathophysiology of Parkinson’s disease are now well established. However, some basic characteristics like the developmental origin and molecular phenotype of neuronal subpopulations are still being debated. The classical model of forebrain development attributed the origin of STN within the diencephalon. Recent studies of gene expression patterns exposed shortcomings of the classical model. To accommodate these findings, the prosomeric model was developed. In this concept, STN develops within the hypothalamic primordium, which is no longer a part of the diencephalic primordium. This concept is further supported by the expression patterns of many transcription factors. It is interesting to note that many transcription factors involved in the development of the STN are also involved in the pathogenesis of neurodevelopmental disorders. Thus, the study of neurodevelopmental disorders could provide us with valuable information on the roles of these transcription factors in the development and maintenance of STN phenotype. In this review, we summarize historical theories about the developmental origin of the STN and interpret the gene expression data within the prosomeric conceptual framework. Finally, we discuss the importance of neurodevelopmental disorders for the development of the STN and its potential role in the pathophysiology of neurodevelopmental disorders.

• Keywords (english): Basal Ganglia / physiology; Humans; Neurons / physiology; Parkinson Disease / metabolism; Subthalamic Nucleus / physiology; Transcription Factors / genetics; Transcription Factors / metabolism
• Language: english
• Publication type: Scientific paper - Review paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: eNeuro
• Numbering: vol. 9, no. 5, ENEURO.0193-22.2022
• p-ISSN: 2373-2822
• DOI: https://doi.org/10.1523/ENEURO.0193-22.2022
• URN:NBN: urn:nbn:hr:105:177571
• Publication: 2022-10-18
• Document URL: https://www.eneuro.org/lookup/doi/10.1523/ENEURO.0193-22.2022
• Type of resource: Text
• Access conditions: Open access
• Created on: 2023-08-22 07:40:37