BPG is committed to discovery and dissemination of knowledge
Featured Articles
12/30/2024 10:50:49 AM | Browse: 376 | Download: 1181
Publication Name World Journal of Diabetes
Manuscript ID 94861
Country China
Received
2024-03-26 16:05
Peer-Review Started
2024-03-26 16:05
First Decision by Editorial Office Director
2024-08-28 04:30
Return for Revision
2024-08-28 04:30
Revised
2024-09-10 09:33
Publication Fee Transferred
Second Decision by Editor
2024-11-12 08:31
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2024-11-21 10:05
Articles in Press
2024-11-21 10:05
Edit the Manuscript by Language Editor
Typeset the Manuscript
2024-12-20 09:00
Publish the Manuscript Online
2024-12-30 09:47
ISSN 1948-9358 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Medicine, Research & Experimental
Manuscript Type Basic Study
Article Title Effect of SPTLC1 on Type 2 diabetes mellitus
Manuscript Source Unsolicited Manuscript
All Author List Bo Yi, Yan Bao and Zhong-Yuan Wen
Funding Agency and Grant Number
Corresponding Author Bo Yi, MD, PhD, Department of Endocrinology, Renmin Hospital of Wuhan University, No. 238 Jiefang Road, Wuchang District, Wuhan 430060, Hubei Province, China. 1227yb@whu.edu.cn
Key Words Apoptosis; Diabetic peripheral neuropathy; Gene mutation; Inflammation; SPTLC1; Type 2 diabetes mellitus
Core Tip The single gene defects of type 2 diabetes mellitus (T2DM) with strong family history is not clear yet. We identified Serine Palmitoyltransferase Long Chain Base Subunit 1 (SPTLC1) p.G371R mutation as the likely pathogenic mutation from an adult-onset T2DM patients with strong family history. We also found that this mutation induced the expression of tumor necrosis factor-α and the percent of apoptosis in HEK 293T cells. Moreover, data from AMP T2D knowledge showed a positive correlation between rare variant gene-level associations for SPTLC1 and the risk of T2M. This study provides a novel perspective to understand the pathology of T2DM.
Publish Date 2024-12-30 09:47
Citation

Yi B, Bao Y, Wen ZY. Effect of SPTLC1 on Type 2 diabetes mellitus. World J Diabetes 2025; 16(2): 94861

URL https://www.wjgnet.com/1948-9358/full/v16/i2/94861.htm
DOI https://dx.doi.org/10.4239/wjd.v16.i2.94861
Full Article (PDF) WJD-16-94861-with-cover.pdf