Article
Biochemistry & Molecular Biology
Hansi Weissensteiner, Lukas Forer, Liane Fendt, Azin Kheirkhah, Antonio Salas, Florian Kronenberg, Sebastian Schoenherr
Summary: haplocheck is a tool that accurately detects sample contamination in mitochondrial studies, especially in large-scale datasets, without being affected by phylogenetic distance. It is available as a command-line tool and cloud web service for easy access to interactive reports.
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)
Article
Cell Biology
Hao Wu, Wenshuo Zhang, Fengli Xu, Kun Peng, Xiaoyu Liu, Wanqiu Ding, Qi Ma, Heping Cheng, Xianhua Wang
Summary: Wu et al. have identified C17orf80 as a bona fide mitochondrial nucleoid protein that promotes mtDNA replication. This discovery sheds light on the regulation of mtDNA maintenance and offers a potential target for treating diseases associated with defective mtDNA metabolism.
JOURNAL OF CELL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Agnieszka Piotrowska-Nowak, Krzysztof Safranow, Jakub G. Adamczyk, Ireneusz Soltyszewski, Pawel Cieszczyk, Katarzyna Tonska, Cezary Zekanowski, Beata Borzemska
Summary: Energy efficiency is crucial for athletic performance. This study investigated the relationship between mitochondrial DNA (mtDNA) variants and athletic performance among Polish male athletes. The analysis revealed no correlation between mtDNA variants and athletic performance, but showed a lower mtDNA copy number in both power and endurance athletes compared to controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Bibekananda Kar, Santiago R. Castillo, Ankit Sabharwal, Karl J. Clark, Stephen C. Ekker
Summary: Mitochondria are crucial organelles involved in energy generation and cell functionality, as well as producing important signaling molecules. They can vary between cells, tissues, and organs, and undergo changes due to disease, aging, and environmental factors. Human mitochondrial DNA can have single nucleotide variants that are linked to life-threatening diseases. Mitochondrial DNA base editing tools have proven useful in creating disease models and offer potential for personalized gene therapies targeting mtDNA-based disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Mohammed Dashti, Hussain Alsaleh, Juan L. Rodriguez-Flores, Muthukrishnan Eaaswarkhanth, Fahd Al-Mulla, Thangavel Alphonse Thanaraj
Summary: The study revealed that individuals with mitochondrial haplogroup J in the Qatari population have an increased risk of obesity, while individuals with haplogroup X have a lower risk of obesity. Additionally, a set of 38 mitochondrial variants were found to be associated with obesity.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Maria Angela Diroma, Alessandra Modi, Martina Lari, Luca Sineo, David Caramelli, Stefania Vai
Summary: The study successfully reconstructed almost complete mtDNA genomes for most analyzed samples, and provided guidelines for dealing with potential artifact sources. Through data simulations, it was demonstrated that new sequencing technologies and software are sensitive enough to detect partially mutated sites in ancient genomes and discriminate true variants from artifacts.
FRONTIERS IN GENETICS
(2021)
Review
Medicine, Research & Experimental
Vladislav O. Soldatov, Marina V. Kubekina, Marina Yu. Skorkina, Andrei E. Belykh, Tatiana V. Egorova, Mikhail V. Korokin, Mikhail V. Pokrovskiy, Alexey V. Deykin, Plamena R. Angelova
Summary: Mitochondrial diseases are a diverse group of multisystem disorders involving metabolic errors. Understanding mitochondrial genetics is crucial for developing treatment strategies for rare and difficult-to-diagnose diseases.
JOURNAL OF TRANSLATIONAL MEDICINE
(2022)
Article
Genetics & Heredity
Liyan Xu, Kaili Yang, Qi Fan, Yuwei Gu, Shengwei Ren
Summary: This study characterized the mtDNA heteroplasmy profile in KC and found an association between heteroplasmic levels of m.16180_16181delAA and KC.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Gustavo Carvalho, Bruno Marcal Repoles, Isabela Mendes, Paulina H. Wanrooij
Summary: Research has focused on maintenance and instability of mitochondrial DNA, exploring the role of DNA repair factors in mitochondria and the connection between mtDNA damage and immune response. Future studies should delve into mechanisms by which mitochondria maintain mtDNA, the balance between repair and degradation, as well as the release of mtDNA into the cytosol.
ANTIOXIDANTS & REDOX SIGNALING
(2022)
Article
Biochemistry & Molecular Biology
Iman Al Khatib, Jingti Deng, Andrew Symes, Marina Kerr, Hongliang Zhang, Shar-yin Naomi Huang, Yves Pommier, Aneal Khan, Timothy E. Shutt
Summary: This study identified two variants of TOP1MT that are associated with hypertrophic cardiomyopathy and impair the function of TOP1MT. These findings provide insights into the roles of TOP1MT in maintaining and expressing the mitochondrial genome and suggest that impairments in this protein may contribute to human pathology.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
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
Biochemistry & Molecular Biology
Benedict G. Tan, Christian D. Mutti, Yonghong Shi, Xie Xie, Xuefeng Zhu, Pedro Silva-Pinheiro, Katja E. Menger, Hector Diaz-Maldonado, Wei Wei, Thomas J. Nicholls, Patrick F. Chinnery, Michal Minczuk, Maria Falkenberg, Claes M. Gustafsson
Summary: The discovery of a second light strand promoter (LSP2) in the human mitochondrial genome expands our understanding of mitochondrial gene expression by allowing replication and gene expression to be orchestrated from two distinct sites.
Article
Multidisciplinary Sciences
Pedro Silva-Pinheiro, Pavel A. Nash, Lindsey Van Haute, Christian D. Mutti, Keira Turner, Michal Minczuk
Summary: Mutations in mitochondrial DNA can lead to clinically heterogeneous diseases. Here the authors demonstrate in vivo base editing of mouse mitochondrial DNA in a post-mitotic tissue by AAV delivery of DddA-derived cytosine base editor (DdCBE).
NATURE COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Teppei Inatomi, Shigeru Matsuda, Takashi Ishiuchi, Yura Do, Masunari Nakayama, Shusaku Abe, Kazutoshi Kasho, Sjoerd Wanrooij, Kazuto Nakada, Kenji Ichiyanagi, Hiroyuki Sasaki, Takehiro Yasukawa, Dongchon Kang
Summary: TFB2M and POLRMT are crucial for the maintenance of mitochondrial DNA (mtDNA) in human cells, playing vital roles not only in strand-asynchronous replication but also in strand-coupled replication initiation.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
(2022)
Review
Developmental Biology
Jock K. Findlay, Michael K. Holland, Bob B. M. Wong
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)
Review
Cell Biology
Justin C. St John
Article
Agriculture, Dairy & Animal Science
Desmond A. R. Tutt, Claudia Passaro, Deanne J. Whitworth, Michael K. Holland
ANIMAL REPRODUCTION SCIENCE
(2020)
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)