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Identification of novel differentially expressed genes in type 1 diabetes mellitus complications using transcriptomic
Bashair M Mussa1, Thenmozhi Venkatachalam2, Ankita Srivastava3
1Basic Medical Science Department, College of Medicine, University of Sharjah, P.O. Box: 27272, Sharjah, United Arab Emirates. bmussa@sharjah.ac.ae.
Insights
This study identified seven common genes linked to type 1 diabetes mellitus (T1DM) complications in Emirati patients. Understanding these genetic factors is key to managing T1DM long-term.
Area of Science:
- Genomics and Molecular Biology
- Endocrinology and Metabolism
- Human Genetics
Background:
- Type 1 diabetes mellitus (T1DM) is a chronic condition with severe long-term complications.
- Identifying genetic factors contributing to T1DM complications is crucial for effective management.
- Previous research has not comprehensively explored common differentially expressed genes (DEGs) in T1DM complications using whole transcriptomic profiling in the United Arab Emirates (UAE) population.
Purpose of the Study:
- To identify common differentially expressed genes (DEGs) associated with various type 1 diabetes mellitus (T1DM) complications.
- To investigate the role of whole transcriptomic profiling in understanding the genetic basis of T1DM complications in Emirati patients.
- To explore the functional pathways regulated by candidate DEGs in T1DM complications.
Main Methods:
- A multicenter study involving 58 Emirati participants (45 with T1DM) aged over 18 and with a BMI < 25 kg/m².
- Whole transcriptomic analysis using Next-Generation Sequencing (NGS) was performed.
- Identified five T1DM complication groups: hyperlipidemia, neuropathy, ketoacidosis, hypothyroidism, and polycystic ovary syndrome (PCOS).
Main Results:
- Seven common candidate DEGs (SPINK9, TRDN, PVRL4, MYO3A, PDLIM1, KIAA1614, GRP) were found to be upregulated in T1DM complications.
- Significant upregulation of SPINK9 and MYO3A was observed across various complications, including hyperlipidemia, neuropathy, ketoacidosis, hypothyroidism, and PCOS.
- Functional pathways related to ion transport, mineral absorption, and cytosolic calcium concentration were implicated in regulating candidate genes associated with neuropathy, ketoacidosis, and PCOS.
Conclusions:
- This study provides novel insights into the common genetic factors underlying T1DM complications in an Emirati cohort.
- The identified DEGs, particularly SPINK9 and MYO3A, represent potential biomarkers for T1DM complications.
- Further research is warranted to elucidate the precise causative roles of these genes in the development of T1DM complications.
Abstract:
Type 1 diabetes mellitus (T1DM) is a chronic metabolic disorder that mainly affects children and young adults. It is associated with debilitating and long-life complications. Therefore, understanding the factors that lead to the onset and development of these complications is crucial. To our knowledge this is the first study that attempts to identify the common differentially expressed genes (DEGs) in T1DM complications using whole transcriptomic profiling in United Arab Emirates (UAE) patients. The present multicenter study was conducted in different hospitals in UAE including University Hospital Sharjah, Dubai Hospital and Rashid Hospital. A total of fifty-eight Emirati participants aged above 18 years and with a BMI < 25 kg/m2 were recruited and forty-five of these participants had a confirmed diagnosis of T1DM. Five groups of complications associated with the latter were identified including hyperlipidemia, neuropathy, ketoacidosis, hypothyroidism and polycystic ovary syndrome (PCOS). A comprehensive whole transcriptomic analysis using NGS was conducted. The outcomes of the study revealed the common DEGs between T1DM without complications and T1DM with different complications. The results revealed seven common candidate DEGs, SPINK9, TRDN, PVRL4, MYO3A, PDLIM1, KIAA1614 and GRP were upregulated in T1DM complications with significant increase in expression of SPINK9 (Fold change: 5.28, 3.79, 5.20, 3.79, 5.20) and MYO3A (Fold change: 4.14, 6.11, 2.60, 4.33, 4.49) in hyperlipidemia, neuropathy, ketoacidosis, hypothyroidism and PCOS, respectively. In addition, functional pathways of ion transport, mineral absorption and cytosolic calcium concentration were involved in regulation of candidate upregulated genes related to neuropathy, ketoacidosis and PCOS, respectively. The findings of this study represent a novel reference warranting further studies to shed light on the causative genetic factors that are involved in the onset and development of T1DM complications.
