Week 9 – Results and Conclusions
Hi guys, It’s Arnab and this is my ninth weekly update on my senior research project: Exploring the Genomic Effects of PNPLA7 Mutations on Cerebral Palsy through RNA Sequencing.
This week was incredibly exciting as the accumulation of all the hard work done in this research project yielded promising results. Through our two primary Downstream Analysis methods (Overrepresentation Analysis [ORA] and Gene Set Enrichment Analysis [GSEA] ) we were able to discover genes and gene pathways that might be contributing to causing Cerebral Palsy. First, from ORA we utilized our 16 genes of statistical significance to discover any gene with gene pathways that may have been present and indeed we found some. SLC27A was our most significant along with PTPRF and SGPP2 which held noticeable statistical differences compared to the other genes. All these genes’ pathway were involved in phospholipids regulation activity, playing directly into PNPLA7’s function. This means that we have potentially found direct gene hits from out research and analysis that can be experimentally tested for further validity in the wet-lab. Additionally, we discovered specific gene pathways from GSEA which yielded Riboflavin and Retinol Metabolism, pathways directly involved in breaking down phospholipids, playing right into PNPLA7’s function. Cell Cycle pathways were also heavily significant potentially meaning there could be some sort of Cell Cycle Disruption within the mutation of the PNPLA7 gene, however this could be a false alarm as Cell Cycle takes place in various parts of the body and is not specific enough to draw any real and reliable conclusions from. However, our most interesting and significant pathways that we identified from GSEA was Axon Guidance and Notch Signaling Pathway which have been previously associated to cause Neurological Disorders when disrupted. These pathways are direct hits and should be further experimentally tested to confirm these exciting results.
I hope you find this entire research process as exciting and fulfilling as I have, see you soon!