Article
Genetics & Heredity
Hanchuan Tao, Cheng Wang, Chongmei Lu, Ning Ma, Yifan Zhu, Shihai Xuan, Xiaojun Zhou
Summary: MPV17, as a highly expressed protein in liver cancer, is associated with poor prognosis. Its prognostic value and functions suggest that MPV17 may serve as a potential biomarker for liver cancer diagnosis and prognosis, providing new insights into liver cancer therapies.
Article
Gastroenterology & Hepatology
Ki Teak Hong, Byung Chan Lim, Jin Soo Moon, Jae Sung Ko
Summary: MPV17-related hepatocerebral mtDNA depletion syndrome is a rare autosomal recessive disease characterized by developmental delay, jaundice, and failure to thrive in patients, with laboratory findings indicating liver dysfunction and metabolic disturbances. Brain magnetic resonance imaging reveals demyelination of the white matter.
KOREAN JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Cell Biology
Wan-Ping Bian, Shi-Ya Pu, Shao-Lin Xie, Chao Wang, Shun Deng, Phyllis R. Strauss, De-Sheng Pei
Summary: In this study, a new mutant with mpv17 knockout was developed using the CRISPR/Cas9 system. The mpv17(-/-) zebrafish exhibited developmental defects in muscles, liver, and energy supply, likely due to severe mitochondria dysfunction. The introduction of normal exogenous mitochondria through microinjection partially restored the expression of genes involved in TAG metabolism.
CELL DEATH DISCOVERY
(2021)
Article
Medicine, Research & Experimental
Qiaoli Tang, Wanting Shi, Ming Liu, Liqin Tang, Wei Ren, Shaolin Shi
Summary: MPV17 is a mitochondrial inner membrane protein that plays a protective role in cells. Mpv17-deficient mice were found to be resistant to diabetes induced by streptozotocin and an insulin mutation. Mpv17 deficiency also led to less severe beta-cell loss and apoptosis in these diabetic mouse models.
Article
Cell Biology
Kathy N. Lam, Peter Spanogiannopoulos, Paola Soto-Perez, Margaret Alexander, Matthew J. Nalley, Jordan E. Bisanz, Renuka R. Nayak, Allison M. Weakley, Feiqiao B. Yu, Peter J. Turnbaugh
Summary: The study demonstrates the use of engineered bacteriophage M13 to deliver DNA to Escherichia coli in the mouse gastrointestinal tract, enabling strain-specific depletion and genomic deletions. Multiple mechanisms allow E. coli to escape targeting, providing a foundation for microbiome editing and suggesting potential for extension to other phage-bacterial pairs.
Review
Cardiac & Cardiovascular Systems
Haiying Wang, Yijun Han, Shenwei Li, Yunan Chen, Yafen Chen, Jing Wang, Yuqing Zhang, Yawen Zhang, Jingsuo Wang, Yong Xia, Jinxiang Yuan
Summary: This article introduces the structure and function of mitochondria, as well as various types of MDS associated with cardiac diseases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cell Biology
Daniela Bebbere, Susanne E. Ulbrich, Katrin Giller, Valeri Zakhartchenko, Horst-Dieter Reichenbach, Myriam Reichenbach, Paul J. Verma, Eckhard Wolf, Sergio Ledda, Stefan Hiendleder
Summary: The study reveals about 50% reduction in mitochondrial DNA (mtDNA) in the liver and skeletal muscle of SCNT fetuses at day 80 of gestation, with no significant decrease observed in the brain. The depletion of mtDNA is associated with hepatomegaly and muscle hypertrophy of SCNT fetuses, indicating that it is a major signature of perturbations after SCNT. The expression of selected nuclear-encoded genes pivotal for mtDNA replication is similar to controls, suggesting that the mitochondrial perturbation in interaction with incomplete nuclear reprogramming drives abnormal epigenetic features and correlated phenotypes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Yun Soo Hong, Stephanie L. Battle, Wen Shi, Daniela Puiu, Vamsee Pillalamarri, Jiaqi Xie, Nathan Pankratz, Nicole J. Lake, Monkol Lek, Jerome I. Rotter, Stephen S. Rich, Charles Kooperberg, Alex P. Reiner, Paul L. Auer, Nancy Heard-Costa, Chunyu Liu, Meng Lai, Joanne M. Murabito, Daniel Levy, Megan L. Grove, Alvaro Alonso, Richard Gibbs, Shannon Dugan-Perez, Lukasz P. Gondek, Eliseo Guallar, Dan E. Arking
Summary: Based on the study of participants in the UK Biobank, it was found that mitochondrial heteroplasmy is associated with increased risk of all-cause mortality and the prevalence and incidence of cancer, especially leukemia.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Wenlu Fan, Xiaoye Jin, Man Xu, Yongmei Xi, Weiguo Lu, Xiaohang Yang, Min-Xin Guan, Wanzhong Ge
Summary: Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are associated with various diseases, but the precise mechanisms remain unclear. Using a Drosophila model, researchers found that inactivation of dFARS2 leads to developmental delay and seizure, and modeling human disease-associated FARS2 variants in Drosophila demonstrated their role in inducing neurological disorders. This study highlights the importance of mitochondrial aminoacylation system dysfunction in pathologies and the potential of Drosophila model for functional analysis of human disease-causing variants.
NUCLEIC ACIDS RESEARCH
(2021)
Review
Pharmacology & Pharmacy
Yoon-ha Jang, Sae Ryun Ahn, Ji-yeon Shim, Kwang-il Lim
Summary: Mitochondria are intracellular energy generators whose dysfunction can lead to serious diseases. Understanding the molecular mechanisms underlying mitochondrial dysfunction is crucial for treating mitochondrial diseases. This review summarizes the key genetic processes, core genetic components, and genetic methods used to alleviate the adverse effects of mutations on mitochondrial physiology and functions.
Article
Surgery
Keshav K. Singh
Summary: The article discusses the genetic and environmental factors contributing to skin aging, highlighting the crucial role of mitochondria in this process. Research suggests that transplanting young mitochondria may potentially rejuvenate aging skin and hair.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2021)
Article
Medicine, Research & Experimental
Jiayin Guo, Xiaoxu Chen, Zhiwei Liu, Haifeng Sun, Yu Zhou, Yichen Dai, Yu'e Ma, Lei He, Xuezhen Qian, Jianying Wang, Jie Zhang, Yichen Zhu, Jun Zhang, Bin Shen, Fei Zhou
Summary: The discovery of DddA-derived cytosine base editor (DdCBE) enables precise manipulation of mtDNA, holding potential for the treatment of mitochondrial disorders. In vivo testing using mouse cells and embryos demonstrated the effectiveness and accuracy of DdCBE in editing mtDNA.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Clinical Neurology
Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Christina Liang, Kate E. Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E. Minoche, Velimir Gayevskiy, Amali C. Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E. Dinger, Mark J. Cowley, Carolyn M. Sue
Summary: Comprehensive bigenomic sequencing accurately detects causative genetic variants in affected mitochondrial disease patients, providing precise diagnosis, personalized treatment options, and information on genetic transmission risk.
Article
Multidisciplinary Sciences
Atsushi Kodani, Mizuki Yamaguchi, Ririka Itoh, Man Anh Huynh, Hideki Yoshida
Summary: Knocking down dMpv17 gene in Drosophila is a useful model for investigating MPV17-related hepatocerebral mitochondrial DNA depletion syndrome and Charcot-Marie-Tooth disease. The model demonstrates impaired locomotor activity and learning ability, mitochondrial defects, and abnormal neuromuscular junction morphology. This model has significant implications for studying MPV17-related diseases.
SCIENTIFIC REPORTS
(2022)
Article
Multidisciplinary Sciences
Samantha Corra, Vanessa Checchetto, Michele Brischigliaro, Chiara Rampazzo, Emanuela Bottani, Cristina Gagliani, Katia Cortese, Cristiano De Pitta, Marco Roverso, Diego De Stefani, Sara Bogialli, Massimo Zeviani, Carlo Viscomi, Ildiko Szabo, Rodolfo Costa
Summary: Mutations in MPV17 contribute to mitochondrial DNA depletion syndromes, and this study shows that dMpv17 plays a role in mtDNA maintenance and energy homeostasis in Drosophila melanogaster.