Article
Cell Biology
Jing Bai, Qiang Ma, Yunfeng Lan, Yating Chen, Shanshan Ma, Jiaxin Li, Chuanbin Liu, Zihao Fu, Xu Lu, Yun Huang, Yang Li
Summary: This study explores how the mitochondrial tRNA 15910 C>T mutation leads to maternally inherited essential hypertension (EH), revealing its significant role in the pathogenesis of the disease. Family members carrying this mutation have a significantly higher incidence of hypertension and mutation-carrying cells exhibit increased viability and proliferative capacity, contributing to the occurrence of EH.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Sarah J. J. Brockmann, Eva Buck, Tiziana Casoli, Joao L. Meirelles, Wolfgang P. P. Ruf, Paolo Fabbietti, Karlheinz Holzmann, Jochen H. H. Weishaupt, Albert C. C. Ludolph, Fiorenzo Conti, Karin M. M. Danzer
Summary: This study investigates the role of homoplasmic and heteroplasmic mutations in familial ALS. The analysis of blood samples from ALS patients with maternal inheritance patterns reveals an increase in homoplasmic ND5 mutations and heteroplasmic mutations in mitochondrial genes in platelets. This suggests that specific maternally transmitted mitochondrial DNA mutations might contribute to the disease process in ALS with a maternal pattern of inheritance, in contrast to other neurodegenerative diseases.
Article
Biology
Asadullah, Aziz Ud Din, Sajid Ul Ghafoor, Fazal Akbar, Naveed Akhtar, Muhammad Fiaz Khan, Zaib Ullah, Abdul Kareem
Summary: Cardiovascular diseases are a major cause of death worldwide, with genetic factors such as mitochondrial DNA mutations playing a role in their development. This study found that cardiovascular diseases in the subjects studied were not caused by mutations in the mitochondrial leucine tRNA gene, suggesting the need for further research on the whole mitochondrial DNA of a larger population of CVD patients. This could potentially lead to the identification of DNA markers for early prevention of these diseases.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Yicheng Luo, Peng He, Nivedita Kanrar, Katalin Fejes Toth, Alexei A. Aravin
Summary: piRNA clusters can be spontaneously formed from repetitive transgenic sequences, with continuous trans-generational maternal transmission of small RNAs triggering de novo cluster activation in progeny.
Article
Medicine, General & Internal
Ting Zhang, Renjie Su, Wen Xiang, Wenbin Wang
Summary: This study investigates a Chinese pedigree with maternally inherited non-syndromic hearing loss. Biochemical characterizations of cybrid cell lines derived from an affected matrilineal subject and control subject reveal that the m.14502 T>C mutation decreases ND6 protein synthesis, mitochondrial membrane potential, and ATP synthesis. These mitochondrial dysregulations enhance the generation of ROS in the mutant cells.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Gui-Xin Peng, Xue-Ling Mao, Yating Cao, Shi-Ying Yao, Qing-Run Li, Xin Chen, En-Duo Wang, Xiao-Long Zhou
Summary: The study found that mitochondrial aminoacyl-tRNA synthetases (mito aaRSs) partially colocalize with mitochondrial RNA granules (MRGs), possibly facilitated by their tRNA-binding capacity. Additionally, several mito aaRS-containing complexes were discovered, and their activities were influenced by interactions. These findings deepen our understanding of the functional and regulatory mechanisms of mito aaRSs.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Multidisciplinary Sciences
Julie Perreau, Bo Zhang, Gerald P. Maeda, Mark Kirkpatrick, Nancy A. Moran
Summary: Many animal lineages have maternally inherited symbionts, but they also pose risks to hosts due to genetic drift or selfish mutations. Research has shown that closely related haplotypes are subject to strong within-host selection, resulting in rapid mutation fixation with little impact on host fitness.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Genetics & Heredity
Christina Del Greco, Anthony Antonellis
Summary: Aminoacyl-tRNA synthetases are essential enzymes involved in protein synthesis and mutations in these genes can cause a range of clinical phenotypes. Although there is significant clinical heterogeneity, the underlying mechanisms are not fully understood.
Article
Medicine, Research & Experimental
Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Adori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald Mcinerney, Ben Murrell, Mike Aoun, Liselotte Baeckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach
Summary: This study investigates the impact of pathogenic mutations in mitochondrial tRNA genes on the immune system. The results show that memory T and B cells have lower mutation burdens compared to their antigen-inexperienced naïve counterparts, and this reduction is less pronounced in myeloid lineages. The rapid dilution of the mutations in T and B cells can be induced by antigen receptor-triggered proliferation and is accelerated under metabolic stress conditions. In addition, the pathogenic mutations affect the metabolic remodeling and IFN-gamma production in CD8(+) T cells.
Article
Multidisciplinary Sciences
Tomohiko Sato, Naoko Goto-Inoue, Masaya Kimishima, Jike Toyoharu, Ryuhei Minei, Atsushi Ogura, Hiroyuki Nagoya, Tsukasa Mori
Summary: This study found that growth hormone transgenic salmon exhibit hypoglycemia and reduced ROS levels. Proteomic and signal network analyses revealed decreased mitochondrial ND1 function and the presence of deletion mutations in the transgenic fish.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Bernhard Kuhle, Marscha Hirschi, Lili K. K. Doerfel, Gabriel C. C. Lander, Paul Schimmel
Summary: Animal mitochondrial gene expression relies on specific interactions between nuclear-encoded aminoacyl-tRNA synthetases and mitochondria-encoded tRNAs. Their evolution involves an antagonistic interplay between strong mutation pressure on mtRNAs and selection pressure to maintain their essential function. A human mitochondrial seryl-tRNA synthetase and mtRNA(Ser) complex reveals a rewiring of intermolecular recognition rules driven by strong mutation pressure on mtRNA genes.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Ismail Osman, Jun Wei Pek
Summary: A study found a homeostatic mechanism regulating PGCs number during Drosophila embryogenesis, with maternal sisRNA sisR-2 repressing PGC number by promoting PGC death.
CELL DEATH AND DIFFERENTIATION
(2021)
Article
Cell Biology
Yan Lin, Xuebi Xu, Wei Wang, Fuchen Liu, Dandan Zhao, Duoling Li, Kunqian Ji, Wei Li, Yuying Zhao, Chuanzhu Yan
Summary: This study identified a mitochondrial tRNA(Ser(UCN)) mutation causing severe mitochondrial myopathy, leading to impaired mitochondrial translation, respiratory deficiency, ROS overproduction, and decreased MMP. These findings offer valuable insights into the pathogenic mechanism and functional consequences of the mt-tRNA mutation.
Article
Cell Biology
Xiaohong Deng, Dongmei Ji, Xinyuan Li, Yuping Xu, Yu Cao, Weiwei Zou, Chunmei Liang, Jordan Lee Marley, Zhiguo Zhang, Zhaolian Wei, Ping Zhou, Yajing Liu, Yunxia Cao
Summary: Certain mtDNA D-loop variants were found to be associated with decreased risk of PCOS in a Chinese population, but no significant correlation was found between D-loop polymorphisms and clinical characteristics within the PCOS group. Haplotype analysis suggested that a specific haplotype was significantly associated with decreased risk of PCOS.
Article
Biochemistry & Molecular Biology
Tingting Yu, Yi Zhang, Wen-Qiang Zheng, Siqi Wu, Guoqiang Li, Yong Zhang, Niu Li, Ruen Yao, Pengfei Fang, Jian Wang, Xiao-Long Zhou
Summary: Mitochondrial translation is crucial for cellular energy homeostasis, and variations in mitochondrial aaRSs can lead to various human diseases. This study identified two novel variants of SARS2 that cause a multisystem disorder. These variants exhibited reduced tRNA binding and aminoacylation capacities, resulting in mitochondrial dysfunction and decreased tRNA abundance due to RNA degradation. The findings highlight the importance of reduced tRNA(Ser)(AGY) abundance in the development of SARS2-related diseases.
NUCLEIC ACIDS RESEARCH
(2022)
