همایش ملی بیوانفورماتیک ایران

صفحه اصلی / 4th international edition and 13th Iranian Conference on Bioinformatics

Identifying the expression profile of genes involved in human brain development using transcriptome data

نویسندگان :

Amirhosein Akhoondi¹ Mostafa Rafeipour² Farinaz Behfarjam³

1- دانشگاه البرز آبیک 2- دانشگاه البرز آبیک 3- دانشگاه البرز آبیک

کلمات کلیدی :

Brain development،gene expression،Transcriptome

چکیده :

Abstract: The human brain is one of the most complex organs, responsible for controlling all cognitive, motor, and emotional activities. The development and growth of the brain during fetal and childhood stages play a significant role in an individual's mental and physical health in adulthood. The objective of this research was to pinpoint new genes with notable differential expression impacting brain development, using bioinformatics Meta-analysis. In this research, transcriptome data (RNA-Seq) from four patient samples with neurological disorders (improper brain development) and four samples from healthy individuals were collected from the NCBI-SRA database and initially quality-assessed. The quality-checked data were analyzed using specific RNA-Seq guideline. Finally, genes and molecular pathways involved in the pathogenesis related to disorders in brain development were reported. The study highlighted pivotal genes such as LMX1B, EN1, FOXA2 and NTSR1 and signaling pathways that linked to brain development, emphasizing their roles in processes like cortical formation and neuron differentiation. Moreover, pathways like Wnt/β-catenin and Sonic hedgehog were crucial for neural patterning, while mTOR was key for synaptic modulation, underscoring the complexity and precision of genetic orchestration in brain maturation. The study's findings underscore the critical role of specific genes and signaling pathways in the intricate process of brain development. It revealed how deviations in these genetic mechanisms are closely associated with severe neurodevelopmental disorders, highlighting the significance of precise genetic regulation in brain maturation and the potential for targeted therapeutic strategies in addressing neurological abnormalities.