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.
Article
Multidisciplinary Sciences
Young Geun Mok, Ji Min Lee, Eugene Chung, Jaesuk Lee, Kayeong Lim, Sung-Ik Cho, Jin-Soo Kim
Summary: This study presents non-toxic, full-length variants of DddAtox, enabling the use of monomeric DdCBEs for efficient editing of mitochondrial DNA. The monomeric DdCBEs showed different mutation patterns compared to conventional dimeric DdCBEs and allowed base editing at sites with only one TALE protein. Additionally, transfecting mRNA encoding mDdCBEs reduced off-target editing in human mitochondrial DNA.
NATURE COMMUNICATIONS
(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)
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)
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
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
Parasitology
Merga Daba Tuli, Hongyi Li, Xi Pan, Song Li, Junqiong Zhai, Yajiang Wu, Wu Chen, Wanyi Huang, Yaoyu Feng, Lihua Xiao, Dongjuan Yuan
Summary: This study analyzed and annotated the complete mitochondrial genome of a worm from the intestines of a wild pangolin and discovered a novel Raillietina species with mitochondrial DNA heteroplasmy. These findings provide insights into the heterogeneity of the mt genome in parasitic cestodes and contribute to the understanding of pangolin-parasitic cestodes in terms of their molecular biology, epidemiology, diagnosis, and taxonomy.
PARASITES & VECTORS
(2022)
Article
Multidisciplinary Sciences
Hyunji Lee, Seonghyun Lee, Gayoung Baek, Annie Kim, Beum-Chang Kang, Huiyun Seo, Jin-Soo Kim
Summary: This study demonstrates highly efficient mitochondrial DNA editing using DdCBEs in mouse embryos, creating mitochondrial disease models and showing the potential for treating mitochondrial disorders. The authors show the use of split DddA-derived base editors fused to TALEs in mouse embryos with germline transmission.
NATURE COMMUNICATIONS
(2021)
Article
Biology
Darren J. Walsh, David J. Bernard, Faith Pangilinan, Madison Esposito, Denise Harold, Anne Parle-McDermott, Lawrence C. Brody
Summary: The analysis of somatic variation in the mitochondrial genome requires deep sequencing of mitochondrial DNA. This study presents a PCR-free method for ultra-deep sequencing coverage of the mitochondrial genome, using isolated intact mitochondria and a sequence-independent approach. The method avoids false-heteroplasmy calls caused by long-range PCR amplification and enables researchers to identify low frequency heteroplasmy without introducing PCR biases or NUMT contamination.
COMMUNICATIONS BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-Lopez, Marc Dabad, Raul Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abuli, Elena Garcia-Arumi, Simon Charles Heath, Marta Gut, Ivo Glynne Gut
Summary: Accurate analysis of mitochondrial DNA is crucial for clinical research and diagnostics of mitochondrial diseases. This study presents a method that utilizes Cas9 cleavage, nanopore sequencing, and a custom pipeline to identify pathogenic variants and accurately quantify heteroplasmy. The authors demonstrate that their method is capable of detecting complex deletions, determining the phase of variants, and achieving high coverage of the mitochondrial genome, overcoming the limitations of short-read sequencing. The developed workflow provides a powerful tool for studying mtDNA variation and will greatly accelerate mitochondrial research.
NATURE COMMUNICATIONS
(2022)
Article
Clinical Neurology
Adriana P. Rebelo, Dimah Saade, Claudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A. Schon, Stephan Zuchner, Michael E. Shy