IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency
Our results not only expand the gene mutation spectrum of LS, but also reveal for the first time the pathogenic mechanism of IARS2 variants due to a combined deficiency of mitochondrial complexes I and III, which is helpful for the clinical diagnosis of IARS2 mutation-related diseases.
Authors
- Hezhi Fang (ORCID: https://orcid.org/0000-0003-0956-3160)
- Keer Chen
- Sheng Zhong (ORCID: https://orcid.org/0000-0001-6419-7453)
- Qiyu Dong
- Ya Wang (ORCID: https://orcid.org/0000-0001-6229-4495)
- Yin Xiaojie
- Wenxin Yang (ORCID: https://orcid.org/0009-0006-9141-367X)
- Jianxin Lyu (ORCID: https://orcid.org/0000-0003-4505-4507)
- Yang Yan-ling
- Refiloe Laurentinah Mahlatsi
- Shuanglong Fan
- Xue Ma
- Qian Wang (ORCID: https://orcid.org/0000-0002-6052-9665)
Institutions
- Peking University (CN)
- Wenzhou Medical University (CN)
- Peking University First Hospital (CN)
- Zhejiang Provincial People's Hospital (CN)
- Hangzhou Medical College (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-08-21
- DOI
- https://doi.org/10.1186/s13023-024-03310-x
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- National Natural Science Foundation of China
- Young Scientists Fund
- Natural Science Foundation of Zhejiang Province