Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease
wenqiang zheng1,2
2021-09-11
Source PublicationHUMAN MOLECULAR GENETICS
ISSN0964-6906
EISSN1460-2083
Status已发表
DOI10.1093/hmg/ddab257
Abstract

TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Additionally, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modelling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.

MOST Discipline Catalogue理学
Indexed BySCI
Language英语
Original Document Typewenqiang zheng
Document Type期刊论文
Identifierhttps://kms.shanghaitech.edu.cn/handle/2MSLDSTB/128196
Collection生命科学与技术学院_博士生
Affiliation1.School of Life Science and Technology, ShanghaiTech University, 393 Middle Hua Xia Road, Shanghai 201210, China
2.State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai 200031, China
First Author AffilicationSchool of Life Science and Technology
First Signature AffilicationSchool of Life Science and Technology
Recommended Citation
GB/T 7714
wenqiang zheng. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease[J]. HUMAN MOLECULAR GENETICS,2021.
APA wenqiang zheng.(2021).Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.HUMAN MOLECULAR GENETICS.
MLA wenqiang zheng."Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease".HUMAN MOLECULAR GENETICS (2021).
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