Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue
Abstract Background The principal objective of this study was to gain a better understanding of the mechanisms of type 2 diabetes mellitus (T2DM) patients with fatigue (D-T2DM) through exome and transcriptome sequencing. Methods After whole-exome sequencing on peripheral blood of 6 D-T2DM patients,...
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | Diabetology & Metabolic Syndrome |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13098-022-00884-z |
| _version_ | 1828749414586384384 |
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| author | Bohan Lv Xiuyan Yang Tian An Yanxiang Wu Zhongchen He Bowu Li Yijiao Wang Fang Tan Tingye Wang Jiajian Zhu Yuanyuan Hu Xiaokun Liu Guangjian Jiang |
| author_facet | Bohan Lv Xiuyan Yang Tian An Yanxiang Wu Zhongchen He Bowu Li Yijiao Wang Fang Tan Tingye Wang Jiajian Zhu Yuanyuan Hu Xiaokun Liu Guangjian Jiang |
| author_sort | Bohan Lv |
| collection | DOAJ |
| description | Abstract Background The principal objective of this study was to gain a better understanding of the mechanisms of type 2 diabetes mellitus (T2DM) patients with fatigue (D-T2DM) through exome and transcriptome sequencing. Methods After whole-exome sequencing on peripheral blood of 6 D-T2DM patients, the consensus mutations were screen out and analyzed by a series of bioinformatics analyses. Then, we combined whole-exome sequencing and transcriptome sequencing results to find the important genes that changed at both the DNA and RNA levels. Results The results showed that a total of 265,393 mutation sites were found in D-T2DM patients compared with normal individuals, 235 of which were consensus mutations shared with D-T2DM patients. These genes significantly enriched in HIF-1 signaling pathway and sphingolipid signaling pathway. At the RNA level, a total of 375 genes were identified to be differentially expressed. After the DNA-RNA joint analysis, eight genes were screened that changed at both DNA and RNA levels. Among these genes, FUS and LMNA were related to carbohydrate metabolism, energy metabolism, and mitochondrial function. Subsequently, we predicted the herbs, including Qin Pi and Hei Zhi Ma, that might play a therapeutic role in D-T2DM through the SymMap database. Conclusion These findings have significant implications for understanding the mechanisms of D-T2DM and provide potential targets for D-T2DM diagnosis and treatment. |
| first_indexed | 2024-12-10T20:22:25Z |
| format | Article |
| id | doaj.art-bc74c5a7256d4ccabf65c6524dc3e175 |
| institution | Directory Open Access Journal |
| issn | 1758-5996 |
| language | English |
| last_indexed | 2024-12-10T20:22:25Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Diabetology & Metabolic Syndrome |
| spelling | doaj.art-bc74c5a7256d4ccabf65c6524dc3e1752022-12-22T01:35:00ZengBMCDiabetology & Metabolic Syndrome1758-59962022-08-0114111410.1186/s13098-022-00884-zCombined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigueBohan Lv0Xiuyan Yang1Tian An2Yanxiang Wu3Zhongchen He4Bowu Li5Yijiao Wang6Fang Tan7Tingye Wang8Jiajian Zhu9Yuanyuan Hu10Xiaokun Liu11Guangjian Jiang12Traditional Chinese Medicine School, Beijing University of Chinese MedicineTraditional Chinese Medicine School, Beijing University of Chinese MedicineTraditional Chinese Medicine School, Beijing University of Chinese MedicineTraditional Chinese Medicine School, Beijing University of Chinese MedicineDepartment of Endocrinology, Beijing He Ping li HospitalDepartment of Endocrinology, Beijing He Ping li HospitalDepartment of Endocrinology, Beijing He Ping li HospitalDepartment of Endocrinology, Beijing He Ping li HospitalTraditional Chinese Medicine School, Beijing University of Chinese MedicineTraditional Chinese Medicine School, Beijing University of Chinese MedicineTraditional Chinese Medicine School, Beijing University of Chinese MedicineDepartment of Cardiology, Gongren Hospital of Tangshan CityTraditional Chinese Medicine School, Beijing University of Chinese MedicineAbstract Background The principal objective of this study was to gain a better understanding of the mechanisms of type 2 diabetes mellitus (T2DM) patients with fatigue (D-T2DM) through exome and transcriptome sequencing. Methods After whole-exome sequencing on peripheral blood of 6 D-T2DM patients, the consensus mutations were screen out and analyzed by a series of bioinformatics analyses. Then, we combined whole-exome sequencing and transcriptome sequencing results to find the important genes that changed at both the DNA and RNA levels. Results The results showed that a total of 265,393 mutation sites were found in D-T2DM patients compared with normal individuals, 235 of which were consensus mutations shared with D-T2DM patients. These genes significantly enriched in HIF-1 signaling pathway and sphingolipid signaling pathway. At the RNA level, a total of 375 genes were identified to be differentially expressed. After the DNA-RNA joint analysis, eight genes were screened that changed at both DNA and RNA levels. Among these genes, FUS and LMNA were related to carbohydrate metabolism, energy metabolism, and mitochondrial function. Subsequently, we predicted the herbs, including Qin Pi and Hei Zhi Ma, that might play a therapeutic role in D-T2DM through the SymMap database. Conclusion These findings have significant implications for understanding the mechanisms of D-T2DM and provide potential targets for D-T2DM diagnosis and treatment.https://doi.org/10.1186/s13098-022-00884-zDiabetesWhole-exome sequencingRNA sequencingFatigueMitochondria |
| spellingShingle | Bohan Lv Xiuyan Yang Tian An Yanxiang Wu Zhongchen He Bowu Li Yijiao Wang Fang Tan Tingye Wang Jiajian Zhu Yuanyuan Hu Xiaokun Liu Guangjian Jiang Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue Diabetology & Metabolic Syndrome Diabetes Whole-exome sequencing RNA sequencing Fatigue Mitochondria |
| title | Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| title_full | Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| title_fullStr | Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| title_full_unstemmed | Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| title_short | Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| title_sort | combined analysis of whole exome sequencing and rna sequencing in type 2 diabetes mellitus patients with thirst and fatigue |
| topic | Diabetes Whole-exome sequencing RNA sequencing Fatigue Mitochondria |
| url | https://doi.org/10.1186/s13098-022-00884-z |
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