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Publication Name World Journal of Diabetes
Manuscript ID 121165
Country China
Category Endocrinology & Metabolism
Manuscript Type Basic Study
Article Title Maternally transmitted type 2 diabetes mellitus may be associated with mitochondrial tRNAThr mutations
Manuscript Source Unsolicited Manuscript
All Author List Xue-Jiao Yu and Yu Ding
Funding Agency and Grant Number
Funding Agency Grant Number
Quzhou Bureau of Science and Technology No.2025K044
Hangzhou Joint Fund of the Zhejiang Provincial Natural Science Foundation of China No. LHZY24H020002
Hangzhou Municipal Health Commission No. ZD20220010
Corresponding Author Yu Ding, Associate Professor, MD, Department of Clinical Laboratory, Hangzhou First People’s Hospital, No. 261 Huansha Road, Hangzhou 310006, Zhejiang Province, China. dingyu_zj@126.com
Key Words Type 2 diabetes mellitus; Chinese pedigree; Mitochondrial tRNAThr; Mutations; Mitochondrial dysfunction
Core Tip This study identified three mitochondrial tRNAThr mutations – G15927A, G15930A, and A15951G – in two Han Chinese pedigrees with maternally transmitted type 2 diabetes mellitus. These mutations were associated with variable clinical phenotypes, including deafness, visual impairment, and renal failure. Functional analyses using cybrid cell lines revealed that these mutations lead to mitochondrial dysfunction, as evidenced by reduced adenosine triphosphate production, decreased mitochondrial membrane potential, lower NAD+/NADH ratio, and increased reactive oxygen species levels. Our findings highlighted tRNAThr as a mutational hotspot in mitochondrial diabetes and supported the inclusion of these mutations in genetic screening for early diagnosis and prevention of type 2 diabetes mellitus.
Citation Yu XJ, Ding Y. Maternally transmitted type 2 diabetes mellitus may be associated with mitochondrial tRNAThr mutations. World J Diabetes 2026; In press
Received
2026-03-19 00:30
Peer-Review Started
2026-03-19 23:57
First Decision by Editorial Office Director
2026-04-23 05:52
Return for Revision
2026-04-23 05:52
Revised
2026-05-10 08:42
Publication Fee Transferred
2026-05-25 15:10
Second Decision by Editor
2026-07-03 02:40
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2026-07-03 06:08
Articles in Press
2026-07-03 06:08
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1948-9358 (online)
Open Access This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
Copyright ©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc.
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