Article
Genetics & Heredity
Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski, Jian Zeng, Yuanhao Yang, Dominique Cleary, Rachel Grove, Claire Hafekost, Alexis Harun, Helen Holdsworth, Rachel Jellett, Feroza Khan, Lauren Lawson, Jodie Leslie, Mira Levis Frenk, Anne Masi, Nisha E. Mathew, Melanie Muniandy, Michaela Nothard, Peter M. Visscher, Paul A. Dawson, Cheryl Dissanayake, Valsamma Eapen, Helen S. Heussler, Andrew J. O. Whitehouse, Naomi R. Wray, Jacob Gratten
Summary: This study based on the data from the Australian Autism Biobank found significant differences in genetic scores for ASD and IQ among different groups, with the IQ genetic score being able to predict the IQ of undiagnosed children and parents. Additionally, the genetic score related to chronotype was associated with sleep disturbances in the ASD group.
Review
Biochemistry & Molecular Biology
Emmanuel Makinde, Linlin Ma, George D. Mellick, Yunjiang Feng
Summary: Mitochondria are essential for energy metabolism and play key roles in calcium homeostasis, ROS balance, cell apoptosis, and biosynthetic pathways. Disruption of mitochondrial function is associated with various diseases. This review discusses the physiological and pathological functions of mitochondria, as well as bioactive compounds that protect mitochondria and their mechanisms of action. The article provides insights into promising compounds, challenges in therapeutic use, and future research directions on mitochondrial modulators.
Review
Biochemistry & Molecular Biology
Vellingiri Balachandar, Kamarajan Rajagopalan, Kaavya Jayaramayya, Madesh Jeevanandam, Mahalaxmi Iyer
Summary: Autism is a complex neurodevelopmental and neuropsychiatric disorder with deficits in cognitive functions often linked to environmental and genetic factors. Mitochondria play a crucial role in autism, but research on its dysfunction is currently limited.
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)
Article
Psychiatry
Stavroula Giannoulis, Meghan J. Chenoweth, Paulo Saquilayan, Rachel F. Tyndale, Caryn Lerman, James L. Kennedy, Laurie Zawertailo, Vanessa Goncalves
Summary: This study suggests that mitochondrial genetic variation may contribute to variability in smoking phenotypes, but replication in larger samples is required.
PSYCHIATRY RESEARCH
(2022)
Article
Endocrinology & Metabolism
A-Hyeon Lee, Ju Hee Oh, Hyun Sung Kim, Jeong-Hun Shin, Eileen L. Yoon, Dae Won Jun
Summary: This study found that patients with NAFLD have mitochondrial dysfunction, and the mtDNA copy number of peripheral blood mononuclear cells and mitochondrial ATP inhibition substrate test can be used as biomarkers for assessing mitochondrial dysfunction in these patients. Hepatic mRNA transcriptome analysis showed increased expression of genes related to mitochondrial functions in NAFLD patients compared to non-alcoholic fatty liver disease patients. Gene set enrichment analysis revealed that these upregulated genes are related to the pathways of the TCA cycle and DNA replication.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Pharmacology & Pharmacy
Lorenzo Rivas-Garcia, Jose Luis Quiles, Alfonso Varela-Lopez, Francesca Giampieri, Maurizio Battino, Jorg Bettmer, Maria Montes-Bayon, Juan Llopis, Cristina Sanchez-Gonzalez
Summary: The application of metallic nanoparticles as a therapeutic tool can improve the diagnosis and treatment of diseases by targeting mitochondria, affecting cellular function, and triggering autophagy processes. Nanoparticles have the potential to be used as therapeutic agents for cancer and other diseases dependent on mitochondria.
Article
Oncology
Yanira Ruiz-Heredia, Alejandra Ortiz-Ruiz, Mehmet K. Samur, Vanesa Garrido, Laura Rufian, Ricardo Sanchez, Pedro Aguilar-Garrido, Santiago Barrio, Miguel A. Martin, Niccolo Bolli, Yu-Tzu Tai, Raphael Szalat, Mariateresa Fulciniti, Nikhil Munshi, Joaquin Martinez-Lopez, Maria Linares, Miguel Gallardo
Summary: Analyzing mitochondrial DNA copy number (mtDNACN) in monoclonal gammopathies and multiple myeloma revealed differences related to disease progression and demonstrated the involvement of mitochondria in the pathogenesis of these diseases. The findings highlighted the importance of mtDNACN evaluation in guiding clinical decision making, especially in high-risk smoldering MM cases.
Article
Cell Biology
Raviprasad Kuthethur, Vaibhav Shukla, Sandeep Mallya, Divya Adiga, Shama Prasada Kabekkodu, Lingadakai Ramachandra, P. U. Prakash Saxena, Kapaettu Satyamoorthy, Sanjiban Chakrabarty
Summary: This study identified 13 mitochondrial genome-encoded microRNAs (mitomiRs) that are differentially expressed in breast cancer cells. The expression of mitomiRs is reduced in breast cancer cells with mitochondrial DNA depletion or inhibition of mitochondrial transcription. These mitomiRs interact with the protein Ago2 in both the cytoplasm and mitochondria and regulate the expression of nuclear and mitochondrial transcripts in breast cancer cells. This study suggests that these mitomiRs may be promising tools for expression and functional analysis in patients with mitochondrial defects.
JOURNAL OF CELL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Aleem Razzaq, Yosra Bejaoui, Tanvir Alam, Mohamad Saad, Nady El Hajj
Summary: The analysis of human ribosomal DNA (rDNA) copy number has been challenging due to its repetitive nature. However, studying rDNA variations is important for understanding its role in human health and disease. In this study, whole-genome bisulphite sequencing was used to quantify rDNA copy number and measure DNA methylation at the 45S rDNA locus. The results showed high inter-individual variation in rDNA copy number, but no significant differences were found in autism spectrum disorder (ASD) or schizophrenia brains. However, a strong positive correlation between copy number and DNA methylation was observed in multiple tissues, suggesting a possible dosage compensation mechanism.
Article
Clinical Neurology
Clara A. Moreau, Kuldeep Kumar, Annabelle Harvey, Guillaume Huguet, Sebastian G. W. Urchs, Laura M. Schultz, Hanad Sharmarke, Khadije Jizi, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Jean-Louis Martineau, Pierre Orban, Ana Isabel Silva, Jeremy Hall, Marianne B. M. van den Bree, Michael J. Owen, David E. J. Linden, Sarah Lippe, Carrie E. Bearden, Laura Almasy, David C. Glahn, Paul M. Thompson, Thomas Bourgeron, Pierre Bellec, Sebastien Jacquemont
Summary: This study uses large-scale resting-state functional MRI data to investigate the influence of genetic variants on large-scale brain networks and their correlations with psychiatric disorders and cognitive traits. The findings suggest a substantial genetic component for shared connectivity profiles across conditions and traits, providing new avenues for understanding and treating psychiatric disorders.
Article
Biochemistry & Molecular Biology
Shuangshan Dong, Takashi Kifune, Hiroki Kato, Lu Wang, Jun Kong, Yuta Hirofuji, Xiao Sun, Hiroshi Sato, Yosuke Ito, Takahiro A. Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda
Summary: Melatonin entrains circadian rhythms through MT1 and MT2 receptors, and has neuroprotective and mitochondrial activating effects. This study used deciduous tooth-derived stem cells to model neurodevelopmental defects in autism spectrum disorder (ASD), and found that melatonin supplementation improved dopaminergic system development by modulating mitochondrial Ca2+ homeostasis via MT1/MT2 receptors.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Pharmacology & Pharmacy
Samantha L. VanEtten, Matthew R. Bonner, Xuefeng Ren, Linda S. Birnbaum, Paul J. Kostyniak, Jie Wang, James R. Olson
Summary: Mitochondria are organelles responsible for cellular oxidation and energy production, and their damage can lead to changes in mtDNA copy number. Exposure to TCDD and a mixture of PCB 126 and PCB 153 increased mtDNA copy number in the liver and lung of rats, while exposure to non-DL PCB 153 resulted in decreased or unchanged mtDNA copy number. This suggests that mtDNA copy number could serve as a sensitive biomarker of mitochondrial injury and oxidative stress caused by dioxin-like compounds.
Review
Genetics & Heredity
Thomas J. Dinneen, Fiana Ni Ghralaigh, Ruth Walsh, Lorna M. Lopez, Louise Gallagher
Summary: Rare copy-number variants associated with neurodevelopmental disorders, known as ND-CNVs, have incomplete penetrance and heterogeneous carrier phenotypes. Recent research suggests that other hits in the genome may explain the variable expressivity of ND-CNVs. Understanding these other hits could improve clinical diagnostics and therapeutics for ND-CNV carriers.
TRENDS IN GENETICS
(2022)
Article
Clinical Neurology
Elif Irem Sarihan, Eduardo Perez-Palma, Lisa-Marie Niestroj, Douglas Loesch, Miguel Inca-Martinez, Andrea R. V. R. Horimoto, Mario Cornejo-Olivas, Luis Torres, Pilar Mazzetti, Carlos Cosentino, Elison Sarapura-Castro, Andrea Rivera-Valdivia, Elena Dieguez, Victor Raggio, Andres Lescano, Vitor Tumas, Vanderci Borges, Henrique B. Ferraz, Carlos R. Rieder, Artur F. Schumacher-Schuh, Bruno L. Santos-Lobato, Carlos Velez-Pardo, Marlene Jimenez-Del-Rio, Francisco Lopera, Sonia Moreno, Pedro Chana-Cuevas, William Fernandez, Gonzalo Arboleda, Humberto Arboleda, Carlos E. Arboleda-Bustos, Dora Yearout, Cyrus P. Zabetian, Timothy A. Thornton, Timothy D. O'Connor, Dennis Lal, Ignacio F. Mata
Summary: Parkinson's disease patients from Latino descent show enrichment of copy number variants affecting known Parkinson's disease genes, with PRKN showing the strongest association. Additionally, 5.6% of early-onset patients carried a copy number variant on PRKN. This study provides insights into the genetic complexity of Parkinson's disease in this understudied population.
MOVEMENT DISORDERS
(2021)