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A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype

Crossref DOI link: https://doi.org/10.1007/s10072-026-08875-y

Published Online: 2026-02-16

Published Print: 2026-03

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Zhuang, Xingyu

Wang, Jiayin

Wang, Jianing

Lin, Yan

Yan, Chuanzhu

Ji, Kunqian https://orcid.org/0000-0001-9330-0405
Funding

Funding for this research was provided by:

National Natural Science Foundation of China (82301590, 82171394 and 82371410)

China Postdoctoral Science Foundation (2024M761836)

Natural Science Foundation of Shandong Province (ZR2024MH231, ZR2023QH106)

Shandong Provincial Postdoctoral Innovation Talent Support Program (SDBX2022061)

Postdoctoral Innovation Project of Shandong Province (SDCX-ZG-202400027)

Taishan Scholar Special Foundation of Shandong Province (tsqn202408341)

the Key R&D Program of Shandong Province, China (2022ZLGX03)
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Text and Data Mining valid from 2026-02-16

Version of Record valid from 2026-02-16
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Article History

Received: 5 January 2026

Accepted: 28 January 2026

First Online: 16 February 2026

Declarations

:

: We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

: The study protocol was approved by the Research Ethics Board of Qilu Hospital (registration number: KYLL-2021(KS)-079). All clinical data and associated materials included in this manuscript have been fully anonymized, with no identifiable personal information that could be used to trace back to individual participants. Therefore, Consent to Publish declaration: not applicable.

: Obtained.

: All authors declare that they have no financial conflicts of interest related to this work.

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