Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia
Introduction: Impairment of mitochondrial function caused by pathogenic mitochondrial DNA (mtDNA) mutations has been found to be associated with pre-eclampsia (PE). However, the underlying mechanism of PE remains poorly undetermined. The aim of this study is to evaluate the relationship between mitochondrial tRNA (mt-tRNA) variants and PE. Methods: The mt-tRNA variants in a cohort of 100 pregnant women with PE and 100 healthy subjects were examined by PCR-Sanger sequencing. Moreover, the phylogenetic conservation analysis, mitochondrial haplogroup analysis, and pathogenicity scoring system were used to assess the potential pathogenicity of these tRNA variants. Results: We identified five possible pathogenic mt-tRNA variants: tRNAPhe A608G, tRNAIle A4263G, tRNAAla T5587C, tRNALeu (CUN) G12294C, and tRNAPro G15995A. We noticed that these variants were not detected in control subjects and occurred at the positions which were extremely conserved. Alternations in tRNA structure caused by these variants may lead to the failures in tRNA metabolism, which may subsequently lead to the impairment of mitochondrial translation as well as the respiratory chain functions. Thus, mt-tRNA variants may be involved in the pathogenesis of PE. Conclusion: Taken together, our data indicated that variants in mt-tRNA genes were the important contributors to PE; screening for mt-tRNA variants was recommended for early detection and prevention of PE.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia ; volume:87 ; number:3-4 ; year:2022 ; pages:87-95 ; extent:9
Human heredity ; 87, Heft 3-4 (2022), 87-95 (gesamt 9)
- Creator
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Zhou, Baohua
Chu, Xuelian
Zhang, Caijuan
Liang, Xiufeng
- DOI
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10.1159/000525663
- URN
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urn:nbn:de:101:1-2022121423545353668237
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:36 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Zhou, Baohua
- Chu, Xuelian
- Zhang, Caijuan
- Liang, Xiufeng
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