Review
Biochemistry & Molecular Biology
Luis Sendra, Alfredo Garcia-Mares, Maria Jose Herrero, Salvador F. Alino
Summary: This paper reviews the background and information related to mtDNA diseases and MRTs, emphasizing that MRTs are one of the most effective means to reduce the risk of transmitting mtDNA diseases, but do not eliminate it entirely. It also suggests that global legal regulation of MRTs is necessary.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Zhen Wah Tan, Wei-Ven Tee, Igor N. Berezovsky
Summary: The article summarizes the importance of allosteric drugs in precision medicine, discusses universal allosteric modes of action, and illustrates the application of allosteric signaling and probing fingerprints. It highlights the specificity and versatility of allosteric ligands and emphasizes their advantages in personalized medicine.
JOURNAL OF MOLECULAR BIOLOGY
(2022)
Article
Cell Biology
Simon Lagies, Daqiang Pan, Daniel A. A. Mohl, Dietmar A. A. Plattner, Ian E. E. Gentle, Bernd Kammerer
Summary: Metabolomics has been used to study subcellular compartmentalization and mitochondria DNA depletion syndrome-related protein Sym1. Gas chromatography-mass spectrometry and liquid chromatography-mass spectrometry analyses were combined to identify novel metabolites. A workflow using ultra-high performance liquid chromatography-quadrupole time of flight mass spectrometry reduced complexity without losing metabolites of interest. The results revealed a potential role of Sym1 in pyrimidine metabolism.
Review
Medicine, General & Internal
Tobias Dreischulte, Faiza Shahid, Christiane Muth, Sven Schmiedl, Walter Emil Haefeli
Summary: This review discusses the different types of prescribing cascades and the measures to appropriately recognize and deal with them in both hospital and outpatient settings. The key is to determine if the precipitating drug has caused a clinically relevant adverse drug reaction (ADR) and if altering treatment or switching drugs can avoid the ADR.
DEUTSCHES ARZTEBLATT INTERNATIONAL
(2022)
Editorial Material
Multidisciplinary Sciences
Joanne Liu, Helen Clark, Michel Kazatchkine
Summary: Heads of state and government have the responsibility to prevent future pandemics.
Review
Biochemistry & Molecular Biology
Andrea Kovacs-Valasek, Tibor Rak, Etelka Postyeni, Adrienne Csutak, Robert Gabriel
Summary: An imbalance of homeostasis in the retina leads to neuron loss and deteriorated vision. The major challenges in retinal diseases are age-related alterations, diabetic retinopathy, and glaucoma, which involve complex dysregulation of metabolism. This review summarizes the current knowledge on preventing retinal degeneration and identifies potential mechanisms for protection through herbal medicines, neuroprotective substances, and synthetic drugs. Targeting multiple pathways synergistically and repurposing drugs for related conditions may achieve substantial preventive or therapeutic effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Renkui Bai, Hong Cui, Joseph M. Devaney, Katrina M. Allis, Amanda M. Balog, Xinyue Liu, Rhonda E. Schnur, Faye L. Shapiro, Ariel Brautbar, Juvianee Estrada-Veras, Laurel Hochstetler, Allyn McConkie-Rosell, Marie T. McDonald, Benjamin D. Solomon, Sean Hofherr, Gabriele Richard, Sharon F. Suchy
Summary: Reports questioning the traditional belief of exclusive maternal transmission of human mtDNA have sparked debates, with recent findings suggesting a potential biparental transmission mode. The observed paternal origin of mitochondrial haplogroups is likely due to rare coamplification of nuclear mtDNA segments during testing. Further research is needed to clarify the clinical significance of these findings.
GENETICS IN MEDICINE
(2021)
Article
Neurosciences
Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jaeger, Marcel Kool, David T. W. Jones, Stefan M. M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Straeter, Stephan Rust, Anja Seelhoefer, Janine Reunert, Barbara Fiedler, Ulrich Schueller, Thorsten Marquardt, Kornelius Kerl
Summary: Studies have shown the importance of mitochondrial DNA mutations in medulloblastoma biology, but little is known about their relevance in different subtypes. A case study of a female patient with both mitochondrial disease and G4 medulloblastoma revealed a potential connection between the two, and further analysis identified potentially harmful mtDNA variants in other patients. This case highlights the possible similarities between the sequelae of medulloblastoma treatment and neurological symptoms of mitochondrial dysfunction, providing important insights into the impact of mutations on cancer development and treatment.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Review
Biochemistry & Molecular Biology
Veronica Bazzani, Mara Equisoain Redin, Joshua McHale, Lorena Perrone, Carlo Vascotto
Summary: Mitochondria have their own DNA, which can exist in multiple copies. They have mechanisms to protect and repair DNA damage, as well as specific mechanisms for turnover, fusion, and mitophagy. mtDNA mutations may be common and have effects on aging and neurodegenerative disorders. Analyzing mitochondrial function is crucial for personalized medicine.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pediatrics
Melika Modabber, Karen M. Campbell, C. Meghan McMurtry, Anna Taddio, Laura J. Dempster
Summary: The study found that children emphasized four themes including establishing a therapeutic relationship, sharing power and responsibility, getting to know the person, and empowering the person, which are important for mitigating dental fear and anxiety. The study also found that children particularly value clinic staff attributes and communication skills, as well as the positive influence of pre-operative education and preparation.
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
Cardiac & Cardiovascular Systems
Jorge Oller, Enrique Gabande-Rodriguez, Maria Jesus Ruiz-Rodriguez, Gabriela Desdin-Mico, Juan Francisco Aranda, Raquel Rodrigues-Diez, Constanza Ballesteros-Martinez, Eva Maria Blanco, Raquel Roldan-Montero, Pedro Acuna, Alberto Forteza Gil, Carlos E. Martin-Lopez, J. Francisco Nistal, Christian L. Lino Cardenas, Mark Evan Lindsay, Jose Luis Martin-Ventura, Ana M. Briones, Juan Miguel Redondo, Maria Mittelbrunn
Summary: Mitochondrial dysfunction is a hallmark of aortic aneurysm disease in Marfan syndrome, and boosting mitochondrial function through enhancing Tfam levels shows promise as a potential therapeutic strategy for managing aortic aneurysms.
Editorial Material
Neurosciences
Ashley L. Juavinett
Summary: Neuroscience education is facing a dilemma of teaching coding to students, as many institutions lack the necessary resources. This article outlines three main barriers and their solutions in incorporating programming education into undergraduate and graduate programs.
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)
Editorial Material
Virology
Kenji Yamamoto
Summary: A recent study published in The Lancet suggests that immune function among individuals who received two doses of COVID-19 vaccine becomes lower after 8 months compared to those who were unvaccinated. Therefore, frequent booster shots may not be feasible according to recommendations from the European Medicines Agency. The decrease in immunity could be caused by various factors and could explain the association found between COVID-19 vaccination and shingles. It is important to discontinue further booster vaccinations as a safety measure and to record the date of vaccination for patients' medical records.
Article
Biochemistry & Molecular Biology
Angela Maria Gonella-Diaza, Everton Lopes, Kaue Ribeiro da Silva, Ricardo Perecin Nociti, Gabriella Mamede Andrade, Jorge Eduardo Atuesta-Bustos, Juliano Coelho da Silveira, Flavio Vieira Meirelles, Mario Binelli
Summary: The study found that the endocrine milieu affects miRNA expression in the bovine oviduct in a region-specific manner. Differences in miRNA expression between the SF-SCL and LF-LCL groups may impact important pathways in the oviduct.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Veterinary Sciences
Rosane Mazzarella, Natalia Marins Bastos, Alessandra Bridi, Maite del Collado, Gabriella Mamede Andrade, Jorge Pinzon, Cibele Maria Prado, Luciano Andrade Silva, Flavio Vieira Meirelles, Guilherme Pugliesi, Felipe Perecin, Juliano Coelho da Silveira
Summary: Our study found that in pregnant cows, certain miRNAs were up-regulated in OF-sEVs, indicating a potential communication between the embryo and the mother. Conversely, in OECs from non-pregnant cows, several miRNAs were up-regulated, suggesting a difference in miRNA modulation based on pregnancy status. This highlights the importance of miRNA regulation in OECs and sEVs during early embryonic development in the oviduct.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Alejandro Horga, Andreea Manole, Alice L. Mitchell, Enrico Bugiardini, Iain P. Hargreaves, Walied Mowafi, Conceicao Bettencourt, Emma L. Blakely, Langping He, James M. Polke, Catherine E. Woodward, Ilaria Dalla Rosa, Sachit Shah, Alan M. Pittman, Ros Quinlivan, Mary M. Reilly, Robert W. Taylor, Ian J. Holt, Michael G. Hanna, Robert D. S. Pitceathly, Antonella Spinazzola, Henry Houlden
Summary: Mutations in the MRPL44 gene can cause OXPHOS disorders and early-onset hypertrophic cardiomyopathy. A study found that a specific mutation in MRPL44 affects mitochondrial protein synthesis, leading to reduced levels of OXPHOS components and a multisystem disorder with neurological involvement. This study also identified complete maternal uniparental isodisomy of chromosome 2 in a patient with MRPL44-related disease.
MOLECULAR BIOLOGY REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Alessandra Bridi, Gabriella M. Andrade, Maite del Collado, Juliano R. Sangalli, Ana C. F. C. M. de Avila, Igor G. Motta, Julio C. B. da Silva, Guilherme Pugliesi, Luciano A. Silva, Flavio V. Meirelles, Juliano C. da Silveira, Felipe Perecin
Summary: In vivo- and in vitro-produced bovine embryos have distinct metabolic profiles and gene transcription patterns, with differences in their ability to establish and maintain early pregnancies. The miRNA profiles of hatched bovine blastocysts and the sEVs secreted by them vary between in vivo and in vitro groups. These miRNAs expressed in embryos and sEVs can regulate early embryonic development and endometrial pathways, influencing embryo-maternal communication and pregnancy establishment during early pregnancy.
MOLECULAR REPRODUCTION AND DEVELOPMENT
(2021)
Article
Reproductive Biology
Juliano Coelho da Silveira, Gabriella Mamede Andrade, Rosineide Costa Simas, Helio Alves Martins-Junior, Marcos Nogueira Eberlin, Lawrence Charles Smith, Felipe Perecin, Flavio Vieira Meirelles
Summary: Cell communication within the ovarian follicle is crucial for the oocyte to achieve developmental competence, with follicular fluid facilitating intercellular communication. Recent studies have described the presence of extracellular vesicles containing mRNAs, miRNAs, proteins, and lipids in mammalian follicular fluid, suggesting a potential role in signaling and pathway modulation. The lipid profiles of EVs in follicular fluid may serve as biomarkers associated with the oocyte's developmental capability to reach the blastocyst stage.
Article
Biology
Vanessa Cristina de Oliveira, Kelly Cristine Santos Roballo, Clesio Gomes Mariano Junior, Sarah Ingrid Pinto Santos, Fabiana Fernandes Bressan, Marcos Roberto Chiaratti, Elena J. Tucker, Erica E. Davis, Jean-Paul Concordet, Carlos Eduardo Ambrosio
Summary: This study investigated the effects of CRISPR-Cas9 gene editing of TFAM in HEK293T cells on mtDNA copy number. The findings suggest that editing TFAM can decrease mtDNA copy number and interfere with mitochondrial stability and maintenance.
Article
Cell Biology
Katiane Tostes, Angelica C. dos Santos, Lindomar O. Alves, Luiz R. G. Bechara, Rachel Marascalchi, Carolina H. Macabelli, Mateus P. Grejo, William T. Festuccia, Roberta A. Gottlieb, Julio C. B. Ferreira, Marcos R. Chiaratti
Summary: Mutations in the mitochondrial genome are common in humans and can lead to disorders, with co-existence of mutant and wild-type mtDNAs masking disease phenotype. Liver cells exhibit mtDNA segregation, leading to an increase in variants and potential implications for the safe use of mitochondrial replacement therapy in humans.
Article
Multidisciplinary Sciences
Irati Aiestaran-Zelaia, Maria Jesus Sanchez-Guisado, Marina Villar-Fernandez, Mikel Azkargorta, Lucia Fadon-Padilla, Uxoa Fernandez-Pelayo, Diego Perez-Rodriguez, Pedro Ramos-Cabrer, Antonella Spinazzola, Felix Elortza, Jesus Ruiz-Cabello, Ian J. Holt
Summary: 2-Deoxy-D-glucose (2DG) inhibits glycolysis, stimulates respiration, and restricts viral replication in cultured cells. In the murine heart, 2DG increases the respiratory chain proteome of mitochondria, enhancing oxidative capacity and potentially compensating for the energy deficit caused by glycolysis inhibition.
SCIENTIFIC REPORTS
(2022)
Article
Cell & Tissue Engineering
Kaiana Recchia, Lucas Simoes Machado, Ramon Cesar Botigelli, Naira Caroline Godoy Pieri, Gabriela Barbosa, Raquel Vasconcelos Guimaraes de Castro, Mariana Groke Marques, Lais Vicari de Figueiredo Pessoa, Paulo Fantinato Neto, Flavio Vieira Meirelles, Aline Fernanda de Souza, Simone Maria Massami Kitamura Martins, Fabiana Fernandes Bressan
Summary: This study successfully isolated urine-derived cells (UDCs) in a swine model and reprogrammed them into a pluripotent-like state, which has significant implications for numerous applications in both human and veterinary regenerative medicine.
WORLD JOURNAL OF STEM CELLS
(2022)
Article
Pharmacology & Pharmacy
Marcos R. Chiaratti, Patrick F. Chinnery
Summary: It was previously believed that humans only have one type of mitochondrial DNA (mtDNA), but recent studies have discovered that mixed populations of mtDNA are actually common. The levels of heteroplasmy, or mixed mtDNA, can change significantly during transmission and contribute to mitochondrial diseases and other late onset disorders. While initially thought to be stochastic, the segregation of mtDNA heteroplasmy is now known to be regulated by specific mechanisms. This review provides a synthesis of recent literature on the selection mechanisms for and against mtDNA variants and highlights the gaps in our understanding of this process.
PHARMACOLOGICAL RESEARCH
(2022)
Article
Agriculture, Dairy & Animal Science
Bismarck M. Santiago, Welder A. Baldassini, Marcos R. Chiaratti, Anand K. Pandey, Juliana A. Torrecilhas, Rodrigo N. S. Torres, Richard Ribeiro, Dante P. D. Lanna, Guilherme L. Pereira, Rogerio A. Curi, Luis Artur L. Chardulo, Otavio R. Machado Neto
Summary: This study analyzed the impact of castration on the expression of genes in skeletal muscles and the quality of beef. Results showed that castrated steers had increased expression of genes related to fat metabolism compared to intact bulls. This led to higher intramuscular fat content and different fatty acid profiles in the beef produced by steers and bulls. Despite a 180-day feeding period, crossbred bulls did not exhibit substantial increases in intramuscular fat or improved fatty acid profile compared to steers.
Article
Reproductive Biology
Angelica C. dos Santos, Daniel C. Joaquim, Ricardo P. Nociti, Carolina H. Macabelli, Rafael V. Sampaio, Aline S. Oliveira, Maico O. Pita, Robinson A. M. de Oliveira, Juliano C. da Silveira, Flavio V. Meirelles, Osnir Y. Watanabe, Yeda F. Watanabe, Marcos R. Chiaratti
Summary: Micro-vibration treatment during in vitro embryo culture improves the cryoresistance of bovine embryos, but it may also lead to epigenetic and transcriptional abnormalities.
Article
Biochemistry & Molecular Biology
German Dario Ramirez-Zamudio, Maria Julia Generoso Ganga, Guilherme Luis Pereira, Ricardo Perecin Nociti, Marcos Roberto Chiaratti, Reinaldo Fernandes Cooke, Luis Artur Loyola Chardulo, Welder Angelo Baldassini, Otavio Rodrigues Machado-Neto, Rogerio Abdallah Curi
Summary: The aim of this study was to analyze the effects of different diets on adipogenesis and lipogenesis in calves. It was found that calves receiving creep feeding had higher intramuscular fat content and marbling score compared to those without creep feeding. Differentially expressed genes related to fatty acid metabolism, cholesterol biosynthesis, and insulin sensitivity were identified.
Article
Biochemical Research Methods
Bismarck Santiago, Welder Baldassini, Otavio Machado Neto, Luis Artur Chardulo, Rodrigo Torres, Guilherme Pereira, Rogerio Curi, Marcos Roberto Chiaratti, Pedro Padilha, Laura Alessandroni, Mohammed Gagaoua
Summary: This study investigated the skeletal muscle proteome of crossbred bulls and steers to explain the differences in carcass and meat quality traits. The results showed that steers had better meat quality, while bulls had higher carcass fatness. The proteomic analysis revealed differences in protein expression related to energy metabolism, catabolic processes, oxidative stress, and muscle contraction.
JOURNAL OF PROTEOMICS
(2023)
Article
Agriculture, Dairy & Animal Science
Joedson Dantas Goncalves, Jose Bento Sterman Ferraz, Flavio Vieira Meirelles, Ricardo Perecin Nociti, Maria Emilia Franco Oliveira
Summary: Our study compared the mechanisms of cervical dilation in sheep and cows in different phases of the reproductive cycle. We found differences in gene expression between the follicular and luteal phases in both species. The PI3K/Akt pathway was identified as an important mechanism in cervical relaxation.