Netrang Desai
Juanita High SchoolClass of 2023Redmond, Washington
About
My name is Netrang Desai. I am Junior at Juanita High School, Kirkland, WA. I have been a student researcher at Polygence for over 9 months. Currently, I am serving as Polygence Student Ambassador and I am excited to meet new enthusiastic students! My primary interests are neuroscience and brain diseases/disorders. I will be pleases to provide support to students who are planning to pursue a project in neuroscience and/or brain sciences. I love to use Python programming to solve medicine related problems. I have over 2 years of experience with Python. I am currently working on using machine learning, via Python, to diagnose health complications and estimate risk/survival for certain diseases.Projects
- "Protein-Protein Interactions between HTT, PRPF40B, and MECP2 are involved in Lopes-Maciel-Rodan-Syndrome" with mentor Devon (Aug. 23, 2021)
Project Portfolio
Protein-Protein Interactions between HTT, PRPF40B, and MECP2 are involved in Lopes-Maciel-Rodan-Syndrome
Started Jan. 9, 2021
Abstract or project description
Lopes-maciel-rodan-syndrome (LOMARS) is a very rare and serious neurodevelopmental disorder caused by two compound heterozygous missense mutations on HTT . LOMARS is related to Rett’s syndrome, which is primarily caused by mutations in X-linked Methyl-CpG-Binding Protein 2 (MECP2), since they result in similar neurological phenotypes and manifestations. While HTT and MECP2 proteins are not known to directly bind to each other, it is plausible that other protein(s) enable and enhance this Protein-Protein interaction (PPI). This study reports the involvement of pre-mRNA Processing Factor 40 Homolog B (PRPF40B) in mediating the PPI between HTT and MECP2. Using coevolution data from the MatrixMatchMaker database (MMM-D), we were able to discover PRPF40B as a common interactor of HTT and MECP2. Additionally, we found multiple missense and splice region variants in PRPF40B to result in LOMARS and Retts-like phenotypes. GWAS results obtained from UK BioBank suggest that weakened interactions between mutant-PRPF40B and MECP2 are likely to be associated with the phenotypes. Furthermore, upon docking wild-type and mutant versions of HTT with PRPF40B in HADDOCK 2.4, we observed that the LOMARS-causing mutations in HTT significantly weakened HTT-PRPF40B interactions. These results suggest that the LOMARS-causing mutations could impair PRPF40B’s function to mediate interactions between HTT and MECP2. This study demonstrates the important role of HTT-PRPF40B-MECP2 interactions in the development and progression of LOMARS and suggests the involvement of similar Protein-Protein disruption in Rett’s syndrome.