Review
Biochemistry & Molecular Biology
Olga A. Zhunina, Nikita G. Yabbarov, Andrey V. Grechko, Antonina V. Starodubova, Ekaterina Ivanova, Nikita G. Nikiforov, Alexander N. Orekhov
Summary: Mitochondrial dysfunction is closely associated with various human pathologies, with ROS and RNS playing a critical role in causing protein and mtDNA damage and leading to the development of diseases. Recent studies have identified numerous mtDNA mutations linked to different human pathologies, each having distinct effects in disease progression.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Multidisciplinary Sciences
Yoon Jeong Park, Sangseon Lee, Sangsoo Lim, Hahn Nahmgoong, Yul Ji, Jin Young Huh, Assim A. Alfadda, Sun Kim, Jae Bum Kim
Summary: The study highlights the role of adipocyte-specific DNA methylation in regulating white adipose tissue plasticity and metabolic functions. Lack of DNA methylation disrupts adipocyte metabolism, leading to adipocyte hypertrophy and mitochondrial dysfunction, which increases the risk of obesity and metabolic complications.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Arun Pandian Chandrasekaran, Bharathi Suresh, Neha Sarodaya, Na-Re Ko, Seung-Jun Oh, Kye-Seong Kim, Suresh Ramakrishna
Summary: Among other cancers, colorectal carcinoma (CRC) is a leading cause of death worldwide. The study identified USP29 as highly expressed in CRC and may contribute to its progression. Depletion of USP29 in cancer cells reduced growth and tumor volume, suggesting it as a potential target for therapy.
Article
Biochemistry & Molecular Biology
Sunga Choi, Yu-Ran Lee, Ki-Mo Kim, Euna Choi, Byeong-Hwa Jeon
Summary: The regulation of inflammatory signaling in the tumor microenvironment using adenoviral-mediated PPTLS-APE1/Ref-1 can inhibit the activity of inflammatory immune cells and cancer cells, providing a potential therapeutic strategy for treating triple-negative breast cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Yunwei Lou, Xueqin Tian, Chen Sun, Miaomiao Song, Meijuan Han, Yuxin Zhao, Yaru Song, Xiangfeng Song, Wen Zhang, Youhai H. Chen, Hui Wang
Summary: The protein 8 plays an important modulatory role in colitis and colitis-associated colon cancer. Genetic deletion of protein 8 in mice exacerbates colitis and accelerates inflammation and dysbiosis, leading to abnormal proliferation and DNA damage of intestinal epithelial cells.
CELL DEATH & DISEASE
(2022)
Article
Biochemistry & Molecular Biology
Wei-Min Chen, Jui-Chung Chiang, Zengfu Shang, Guillermo Palchik, Ciara Newman, Yuanyuan Zhang, Anthony J. Davis, Hsinyu Lee, Benjamin P. C. Chen
Summary: DNA-PKcs plays a key role in DNA double-strand break repair and is involved in the cellular response to oxidative stress. It interacts with mitochondria proteins ANT2 and VDAC2 to maintain oxidative phosphorylation and mitochondrial membrane potential. The formation of the DAV complex is important for energizing the cell and its dissociation under oxidative stress helps reduce ROS production and promote cellular recovery.
Article
Food Science & Technology
Laura Bordoni, Anna M. Malinowska, Irene Petracci, Artur Szwengiel, Rosita Gabbianelli, Agata Chmurzynska
Summary: This study explores the potential association between TMA metabolism and mitochondrial dynamics, providing a new avenue for further research.
MOLECULAR NUTRITION & FOOD RESEARCH
(2022)
Article
Multidisciplinary Sciences
Shuaifeng Li, Shixun Han, Qi Zhang, Yibing Zhu, Haitao Zhang, Junli Wang, Yang Zhao, Jianhui Zhao, Lin Su, Li Li, Dawang Zhou, Cunqi Ye, Xin-Hua Feng, Tingbo Liang, Bin Zhao
Summary: The study reveals that elevated FUNDC2 causes mitochondrial fragmentation through inhibiting MFN1 in hepatocellular carcinoma. The findings suggest FUNDC2 as a potential therapeutic target for liver cancer.
NATURE COMMUNICATIONS
(2022)
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
Cell Biology
Cristina A. Nadalutti, Sylvette Ayala-Pena, Janine H. Santos
Summary: Mitochondria are involved in energy production and impact various cellular activities. They have their own genetic material and rely on the nucleus for maintenance. Impaired mitochondrial function is associated with aging and various diseases.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Carlos Jhovani Perez-Amado, Amellalli Bazan-Cordoba, Alfredo Hidalgo-Miranda, Silvia Jimenez-Morales
Summary: Analysis of mitochondrial genome is important in studying human diseases, including cancer, as mutations and variants in tumors impact tumor growth and invasion. Heteroplasmy-shifting is suggested to play a role in tumor progression and treatment response, but further research is needed to fully understand its clinical implications in treating human cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Oncology
Nan Tang, Weilun Wen, Zhihe Liu, Xifeng Xiong, Yanhua Wu
Summary: This article describes the structure, characteristics, and major functions of Helicase POLQ-like (HELQ) in DNA processing, as well as its molecular mechanisms in tumorigenesis. The research suggests that further investigation of HELQ biology is needed, and its critical roles in regulating various DNA processes and participating in tumorigenesis are clinically relevant.
Article
Multidisciplinary Sciences
Jacqueline M. Dresch, Regan D. Conrad, Daniel Klonaros, Robert A. Drewell
Summary: This study examines the sequence variation of core promoter elements in Drosophila melanogaster and reveals the importance of considering detailed sequence composition features for accurate bioinformatic predictions.
Review
Microbiology
Inoka P. Menikpurage, Kristin Woo, Paola E. Mera
Summary: DnaA is the most conserved DNA replication initiator protein in bacteria, fulfilling crucial roles in chromosome replication initiation and gene expression regulation. Its dual functions, as both a replication initiator and transcription factor, provide a potential mechanism for coordinating diverse cellular events with the onset of chromosome replication. This strategy of utilizing replication initiator proteins as regulators of gene expression is also seen in archaea and eukaryotes.
FRONTIERS IN MICROBIOLOGY
(2021)
Review
Oncology
Lucia Robado de Lope, Estela Sanchez-Herrero, Roberto Serna-Blasco, Mariano Provencio, Atocha Romero
Summary: Cancer is considered an evolutionary disease where tumor cells adapt to the environment and eventually form metastasis. Communication between tumor cells and the surrounding microenvironment via extracellular vesicles (EVs) is crucial for the success of the metastatic process. Recent studies suggest that tumor-derived EVs not only modify the microenvironment to facilitate tumor progression but also induce malignant transformation in cells outside the primary tumor. Further research is needed to understand the role of EVs in cancer progression and metastasis, which may have implications for novel cancer treatments.
MOLECULAR ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Justin C. St John, Yogeshwar Makanji, Jacqueline L. Johnson, Te-Sha Tsai, Simone Lagondar, Fleur Rodda, Xin Sun, Mulyoto Pangestu, Penny Chen, Peter Temple-Smith
SCIENTIFIC REPORTS
(2019)
Article
Clinical Neurology
Joanna Poulton, Julie Steffann, Joerg Burgstaller, Robert McFarland, B. Arbeithuber, J. Bengoa, S. Chan, M. Chiaratti, M. Crouch, R. Dimond, J. A. Enriques, G. Gorman, L. Hyslop, I. Johnston, J. Kitto, A. Maguire, S. Mitalipov, Van Otterloo, J. Poulton, S. Sallevelt, H. Smeets, C. Spits, J. St John, J. Stewart, M. Stoneking, D. Thorburn, E. van der Veer, D. Wells
NEUROMUSCULAR DISORDERS
(2019)
Review
Cell Biology
Justin C. St John
Review
Cell Biology
Justin C. St John
Article
Cell Biology
Ronan Kapetanovic, Syeda Farhana Afroz, Divya Ramnath, Grace M. E. P. Lawrence, Takashi Okada, James E. B. Curson, Jost de Bruin, David P. Fairlie, Kate Schroder, Justin C. St John, Antje Blumenthal, Matthew J. Sweet
IMMUNOLOGY AND CELL BIOLOGY
(2020)
Article
Evolutionary Biology
Justin C. St John
Summary: Understanding the interactions between nuclear and mitochondrial genomes is crucial for early development and developmental progression. DNA methylation processes in the nuclear genome and changes in mitochondrial DNA copy number play key roles in establishing cellular function and metabolic status during development. Together, these actions ensure genomic balance and the establishment of the organism's life program at each developmental milestone.
ANNUAL REVIEW OF ANIMAL BIOSCIENCES, VOL 9, 2021
(2021)
Article
Genetics & Heredity
Rafiatu Azumah, Katja Hummitzsch, Monica D. Hartanti, Justin C. St. John, Richard A. Anderson, Raymond J. Rodgers
Summary: This study analyzed the expression of polycystic ovary syndrome (PCOS) candidate genes in bovine fetal ovaries and identified different expression patterns and upstream regulators associated with these genes. The early cluster of genes was mainly involved in mitochondrial function and oxidative phosphorylation, while the late cluster of genes was associated with stromal expansion, cholesterol biosynthesis, and steroidogenesis. These findings provide insights into the development and origins of PCOS, suggesting that multiple etiological pathways may contribute to the development of the syndrome.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Takashi Okada, Stephen McIlfatrick, Nhi Hin, Nader Aryamanesh, James Breen, Justin C. St John
Summary: Mitochondrial supplementation can alter gene expression and DNA methylation patterns in pig blastocysts, potentially affecting the development of specific tissue types later in life.
EPIGENETICS & CHROMATIN
(2022)
Article
Biochemistry & Molecular Biology
Samuel G. Towarnicki, Neil A. Youngson, Susan M. Corley, Jus C. St John, Richard G. Melvin, Nigel Turner, Margaret J. Morris, J. William O. Ballard
Summary: Studies have shown that ancestral life experiences, particularly stress and diet, can influence the growth, metabolism, and behavior of future generations. This research focuses on the non-genetic inheritance between fertilization and adulthood, revealing that ancestral dietary macronutrient composition and quantity can impact the developmental timing of descendants through changes in specific signaling pathways.
Review
Biochemistry & Molecular Biology
Justin C. St John, Takashi Okada, Eryk Andreas, Alexander Penn
Summary: The mitochondrial genome resides in the mitochondria present in nearly all cell types. The porcine (Sus scrofa) mitochondrial genome is approximately 16.7 kb in size and exists in a multimeric format in cells. Different cell types have varying numbers of mitochondrial DNA (mtDNA) copy number based on their need for ATP, which is produced through oxidative phosphorylation. The oocyte, or egg cell, has the highest number of mtDNA copies among all cell types. During oogenesis, the oocyte determines the mtDNA copy number to ensure there are enough copies to support subsequent developmental events. Additionally, it initiates a program of epigenetic patterning that regulates DNA methylation levels of the nuclear genome. Once fertilized, the nuclear and mitochondrial genomes synchronize to ensure proper development of the embryo and fetus. However, altering the mtDNA copy number in the oocyte through mitochondrial supplementation can impact the programming and gene expression profiles of the developing embryo. Interestingly, oocytes that are deficient in mtDNA show improved embryo development rates and gene expression profiles. Furthermore, mtDNA haplotypes, which represent maternal origins, appear to influence developmental outcomes and certain reproductive traits. Overall, manipulating the mitochondrial content of oocytes can provide developmental advantages.
MOLECULAR REPRODUCTION AND DEVELOPMENT
(2023)
Article
Multidisciplinary Sciences
Stephen McIlfatrick, Sean O'Leary, Takashi Okada, Alexander Penn, Vy Hoang Thao Nguyen, Lisa McKenny, Shang-Yu Huang, Eryk Andreas, John Finnie, Roy Kirkwood, Justin C. St John
Summary: Introducing extra mitochondrial DNA (mtDNA) into oocytes at fertilization can rescue poor quality oocytes, but it may alter DNA methylation and gene expression profiles of preimplantation embryos. However, these alterations do not affect gross anatomical, morphological, or histopathological differences and do not lead to clinically significant lesions. The offspring of females with mtDNA supplementation exhibit modified weight and height gain, biochemical, and hematological profiles without any negative health effects.
Article
Biochemistry & Molecular Biology
Takashi Okada, Stephen McIlfatrick, Justin C. St. John
Summary: Mitochondrial DNA (mtDNA) deficiency is associated with poor oocyte quality and fertilisation failure. Supplementing mtDNA deficient oocytes with extra copies of mtDNA improves fertilisation rates and embryo development. The molecular mechanisms underlying oocyte developmental incompetence and the effects of mtDNA supplementation on embryo development are still unclear. This study investigates the association between the developmental competence of Sus scrofa oocytes, assessed with Brilliant Cresyl Blue, and transcriptome profiles. The effects of mtDNA supplementation on the developmental transition from oocyte to blastocyst are also analyzed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Takashi Okada, Alexander Penn, Justin C. C. St. John
Summary: Oocytes can be supplemented with extra copies of mtDNA to improve developmental outcome, with minor differences observed in growth and health of pigs derived from autologous and heterologous mtDNA. However, it is unclear if changes in gene expression during preimplantation development persist and affect gene expression in adult tissues, and if the source of mtDNA influences gene expression patterns. Transcriptome analyses revealed common effects on immune response and glyoxylate metabolism genes in brain, heart, and liver tissues by mtDNA supplementation, with a link to oxidative phosphorylation genes when using third-party mtDNA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Justin C. St John, Takashi Okada, Eryk Andreas, Alexander Penn
Summary: The mitochondrial genome is present in nearly all cell types and its copy number can vary in different cell types. The oocyte has the highest number of mtDNA copies and regulates its copy number to support subsequent developmental events. Manipulating the mtDNA copy number in oocytes can affect embryo development and gene expression profiles.
MOLECULAR REPRODUCTION AND DEVELOPMENT
(2023)
Article
Genetics & Heredity
Takashi Okada, Xin Sun, Stephen McIlfatrick, Justin C. St John
Summary: This study investigated the influence of experimental and analysis conditions on the estimation of methylation levels in specific mtDNA sequences using BS-seq. The researchers found false positive non-CpG methylation in specific regions and identified the causes of these false methylation calls. They also confirmed the absence of CHH methylation in these regions.
NAR GENOMICS AND BIOINFORMATICS
(2022)