KMITL Innovation Expo 2025 Logo

Decoding the Impact of RGL3 Genetic Variants on Protein Structure and Binding Site: A Bioinformatics Approach to Uncover Potential Hypertension Associations

Abstract

Background: The RGL3 gene plays a role in key signal transduction pathways and has been implicated in hypertension risk through the identification of a copy number variant deletion in exon 6. Genome-wide association studies have highlighted RGL3 as associated with hypertension, providing insights into the genetic underpinnings of the condition and its protective effects on cardiovascular health. Despite these findings, there is a lack of data that confirms the precise role of RGL3 in hypertension. Additionally, the functional impact of certain variants, particularly those classified as variants of uncertain significance, remains poorly understood. Objectives: This study aims to analyze alterations in the RGL3 protein structure caused by mutations and validate the location of the ligand binding sites. Methods: Clinical variants of the RGL3 gene were obtained from NCBI ClinVar. Variants of uncertain significance and likely benign were analyzed. Multiple sequence alignment was conducted using BioEdit v7.7.1. AlphaFold 2 predicted the wild-type and mutant 3D structures, followed by quality assessment via PROCHECK. Functional domain analysis of RasGEF, RASGEF_NTER, and RA domains was performed, and BIOVIA Discovery Studio Visualizer 2024 was used to evaluate structural and physicochemical changes. Results: The analysis of 81 RGL3 variants identified 5 likely benign and 76 variants of uncertain significance (VUS), all of which were missense mutations. Structural modeling using AlphaFold 2 revealed three key domains: RasGEF_NTER, RasGEF, and RA, where mutations induced conformational changes. Ramachandran plot validation confirmed 79.7% of residues in favored regions, indicating an overall reliable structure. Moreover, mutations within RasGEF and RA domains altered polarity, charge, and stability, suggesting potential functional disruptions. These findings provide insight into the structural consequences of RGL3 mutations, contributing to further functional assessments. Discussion & Conclusion: The identified RGL3 mutations induced physicochemical alterations in key domains, affecting charge, polarity, hydrophobicity, and flexibility. These changes likely disrupt interactions with Ras-like GTPases, impairing GDP-GTP exchange and cellular signaling. Structural analysis highlighted mutations in RasGEF and RA domains that may interfere with activation states, potentially affecting protein function and stability. These findings suggest that mutations in RGL3 could have functional consequences, emphasizing the need for further molecular and functional studies to explore their pathogenic potential.

Objective

ยีน RGL3 มีบทบาทในการส่งสัญญาณระดับเซลล์ที่สำคัญ และมีความเชื่อมโยงกับความเสี่ยงต่อภาวะความดันโลหิตสูงเนื่องจากการกลายพันธุ์ของยีนในเอ็กซอน 6 การศึกษาความสัมพันธ์เชื่อมโยงในจีโนม (GWAS) แสดงให้เห็นว่า RGL3 เกี่ยวข้องกับภาวะความดันโลหิตสูง ซึ่งทำให้เห็นถึงข้อมูลเชิงลึกเกี่ยวกับพื้นฐานทางพันธุกรรมของภาวะนี้ และอาจช่วยให้ค้นพบผลที่สามารถปกป้องหัวใจและหลอดเลือดจากยีนนี้ แม้ว่าจะมีการค้นพบดังกล่าว แต่ปัจจุบันก็ยังขาดข้อมูลที่ยืนยันบทบาทที่ชัดเจนของ RGL3 ในภาวะความดันโลหิตสูง นอกจากนี้ ผลกระทบทางด้านโครงสร้าง และหน้าที่ของการแปรผันทางพันธุกรรมที่ไม่ทราบนัยยะสำคัญ (VUS) ยังคงไม่มีข้อมูลอธิบายชัดเจน

Other Innovations

Automatic Temperature and Humidity Control System for Small- Scale Household Oyster Mushroom Cultivation Houses

คณะเทคโนโลยีการเกษตร

Automatic Temperature and Humidity Control System for Small- Scale Household Oyster Mushroom Cultivation Houses

In the present day, interest in health and the consumption of chemical-free food has been steadily increasing, particularly in homegrown produce such as Phoenix oyster mushrooms (Pleurotus pulmonarius), which are highly nutritious and suitable for weight control. However, small-scale mushroom cultivation often faces challenges related to unsuitable environmental conditions, such as unstable temperature and humidity, which affect the growth and quality of the mushrooms. The development of an automatic temperature and humidity control system plays a crucial role in addressing these issues by utilizing sensor technology to monitor and adjust environmental conditions with precision. This helps enhance production efficiency, reduce human errors in manual control, and promote safe food production at the household level. Additionally, it helps lower production costs and supports the concept of sustainable living. The adoption of this technology is considered an important innovation in improving the quality of mushroom cultivation and increasing sustainability in food production.

Read more
A Human-engaging Robotic Interactive Assistant

คณะวิศวกรรมศาสตร์

A Human-engaging Robotic Interactive Assistant

The integration of intelligent robotic systems into human-centric environments, such as laboratories, hospitals, and educational institutions, has become increasingly important due to the growing demand for accessible and context-aware assistants. However, current solutions often lack scalability—for instance, relying on specialized personnel to repeatedly answer the same questions as administrators for specific departments—and adaptability to dynamic environments that require real-time situational responses. This study introduces a novel framework for an interactive robotic assistant (Beckerle et al. , 2017) designed to assist during laboratory tours and mitigate the challenges posed by limited human resources in providing comprehensive information to visitors. The proposed system operates through multiple modes, including standby mode and recognition mode, to ensure seamless interaction and adaptability in various contexts. In standby mode, the robot signals readiness with a smiling face animation while patrolling predefined paths or conserving energy when stationary. Advanced obstacle detection ensures safe navigation in dynamic environments. Recognition mode activates through gestures or wake words, using advanced computer vision and real-time speech recognition to identify users. Facial recognition further classifies individuals as known or unknown, providing personalized greetings or context-specific guidance to enhance user engagement. The proposed robot and its 3D design are shown in Figure 1. In interactive mode, the system integrates advanced technologies, including advanced speech recognition (ASR Whisper), natural language processing (NLP), and a large language model Ollama 3.2 (LLM Predictor, 2025), to provide a user-friendly, context-aware, and adaptable experience. Motivated by the need to engage students and promote interest in the RAI department, which receives over 1,000 visitors annually, it addresses accessibility gaps where human staff may be unavailable. With wake word detection, face and gesture recognition, and LiDAR-based obstacle detection, the robot ensures seamless communication in English, alongside safe and efficient navigation. The Retrieval-Augmented Generation (RAG) human interaction system communicates with the mobile robot, built on ROS1 Noetic, using the MQTT protocol over Ethernet. It publishes navigation goals to the move_base module in ROS, which autonomously handles navigation and obstacle avoidance. A diagram is explained in Figure 2. The framework includes a robust back-end architecture utilizing a combination of MongoDB for information storage and retrieval and a RAG mechanism (Thüs et al., 2024) to process program curriculum information in the form of PDFs. This ensures that the robot provides accurate and contextually relevant answers to user queries. Furthermore, the inclusion of smiling face animations and text-to-speech (TTS BotNoi) enhanced user engagement metrics were derived through a combination of observational studies and surveys, which highlighted significant improvements in user satisfaction and accessibility. This paper also discusses capability to operate in dynamic environments and human-centric spaces. For example, handling interruptions while navigating during a mission. The modular design allows for easy integration of additional features, such as gesture recognition and hardware upgrades, ensuring long-term scalability. However, limitations such as the need for high initial setup costs and dependency on specific hardware configurations are acknowledged. Future work will focus on enhancing the system’s adaptability to diverse languages, expanding its use cases, and exploring collaborative interactions between multiple robots. In conclusion, the proposed interactive robotic assistant represents a significant step forward in bridging the gap between human needs and technological advancements. By combining cutting-edge AI technologies with practical hardware solutions, this work offers a scalable, efficient, and user-friendly system that enhances accessibility and user engagement in human-centric spaces.

Read more
TPA Robot Contest Thailand Championship

คณะวิศวกรรมศาสตร์

TPA Robot Contest Thailand Championship

Inventing robots for the TPA Robotics Competition Thailand Championship 2024, game “Rice Way, Thai Way to the International Way (HARVEST DAY)”

Read more