PMID- 35941691 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220811 IS - 1758-5996 (Print) IS - 1758-5996 (Electronic) IS - 1758-5996 (Linking) VI - 14 IP - 1 DP - 2022 Aug 8 TI - Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue. PG - 111 LID - 10.1186/s13098-022-00884-z [doi] LID - 111 AB - 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. CI - (c) 2022. The Author(s). FAU - Lv, Bohan AU - Lv B AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - Yang, Xiuyan AU - Yang X AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - An, Tian AU - An T AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - Wu, Yanxiang AU - Wu Y AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - He, Zhongchen AU - He Z AD - Department of Endocrinology, Beijing He Ping li Hospital, Beijing, China. FAU - Li, Bowu AU - Li B AD - Department of Endocrinology, Beijing He Ping li Hospital, Beijing, China. FAU - Wang, Yijiao AU - Wang Y AD - Department of Endocrinology, Beijing He Ping li Hospital, Beijing, China. FAU - Tan, Fang AU - Tan F AD - Department of Endocrinology, Beijing He Ping li Hospital, Beijing, China. FAU - Wang, Tingye AU - Wang T AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - Zhu, Jiajian AU - Zhu J AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - Hu, Yuanyuan AU - Hu Y AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. FAU - Liu, Xiaokun AU - Liu X AD - Department of Cardiology, Gongren Hospital of Tangshan City, Tangshan, China. lxiaokun@sohu.com. FAU - Jiang, Guangjian AU - Jiang G AD - Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. bucmjiang@163.com. LA - eng GR - NSFC81774171/National Natural Science Foundation of China/ PT - Journal Article DEP - 20220808 PL - England TA - Diabetol Metab Syndr JT - Diabetology & metabolic syndrome JID - 101488958 PMC - PMC9358875 OTO - NOTNLM OT - Diabetes OT - Fatigue OT - Mitochondria OT - RNA sequencing OT - Whole-exome sequencing COIS- The authors declare that they have no competing interests. EDAT- 2022/08/09 06:00 MHDA- 2022/08/09 06:01 PMCR- 2022/08/08 CRDT- 2022/08/08 23:53 PHST- 2022/02/26 00:00 [received] PHST- 2022/07/28 00:00 [accepted] PHST- 2022/08/08 23:53 [entrez] PHST- 2022/08/09 06:00 [pubmed] PHST- 2022/08/09 06:01 [medline] PHST- 2022/08/08 00:00 [pmc-release] AID - 10.1186/s13098-022-00884-z [pii] AID - 884 [pii] AID - 10.1186/s13098-022-00884-z [doi] PST - epublish SO - Diabetol Metab Syndr. 2022 Aug 8;14(1):111. doi: 10.1186/s13098-022-00884-z.