Título: An optimized pipeline for extracting transcriptomic data The Human Protein Atlas: insights normalized MCAD mRNA expression analysis
Proponente(s): Freitas, H. R.
Aluno(s):
Lima, E. A.
Valente, C. B.
Okasaki, G. A. M.
Costa, L. H. S.
Área: Ciências Biológicas e da Saúde
Resumo:
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder classified under Fatty Acid Oxidation Disorders. Individuals with MCAD deficiency exhibit a diminished ability to oxidize medium-chain fatty acids, leading to the accumulation of lipids and their derivatives in blood and various tissues. In this study, we developed an optimized computational pipeline alongside a Shiny application to efficiently extract and analyze mRNA expression data The Human Protein Atlas. Utilizing this tool, we assessed the normalized mRNA levels of the ACADM gene across multiple tissues and brain structures. The extracted MCAD expression data were systematically collected, categorized, and analyzed, providing comprehensive insights into the gene&39;s expression patterns. Our findings contribute to a deeper understanding of the pathophysiology of MCAD deficiency and demonstrate the effectiveness of the developed pipeline and Shiny app in facilitating transcriptomic data analysis.