Article
Multidisciplinary Sciences
Li Mi, Ming Shi, Yu-Xuan Li, Gang Xie, Xichen Rao, Damu Wu, Aimin Cheng, Mengxiao Niu, Fengli Xu, Ying Yu, Ning Gao, Wensheng Wei, Xianhua Wang, Yangming Wang
Summary: There is a need for improving and expanding mitochondrial base editing tools. In this study, researchers identified a DddA homolog from Simiaoa sunii (Ddd_Ss) that efficiently deaminates cytosine in double-stranded DNA. They successfully developed cytosine base editors based on Ddd_Ss and introduced mutations at previously inaccessible mitochondrial DNA loci. This study expands the toolbox for mitochondrial DNA editing and provides resources for further development of double-stranded DNA base editors.
NATURE COMMUNICATIONS
(2023)
Article
Pharmacology & Pharmacy
Aysenur Gunaydin Akyildiz, Tugce Boran, Ayse Tarbin Jannuzzi, Buket Alpertunga
Summary: Lenvatinib, a tyrosine kinase inhibitor approved for various cancer treatments, can induce cardiotoxicity through effects on mitochondrial function and oxidative stress. Research findings suggest that Lenvatinib affects mitochondrial dynamics in cardiomyoblastic cells, leading to fusion and fission of mitochondria, as well as reduced intracellular ATP levels.
TOXICOLOGY AND APPLIED PHARMACOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Paola Zanfardino, Stefano Doccini, Filippo M. Santorelli, Vittoria Petruzzella
Summary: Oxidative phosphorylation is the basic function of mitochondria, and the application of -omics technologies has led to the discovery of new mitochondrial proteins, further defining the mitochondrial proteome and cellular interrelations. Diseases associated with mitochondrial defects are complex, affecting different organs and systems.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Tsung-Hsien Chen, Kok-Yean Koh, Kurt Ming-Chao Lin, Chu-Kuang Chou
Summary: This article discusses the association between impaired mitochondrial function and skeletal muscle disorders, and emphasizes the need for further research to determine the specific clinical benefits of mitochondrial therapy in the treatment of skeletal muscle disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Xiaoli Tang, Hong Liu, Rongjia Rao, Yafei Huang, Mengqi Dong, Miaomiao Xu, Shanshan Feng, Xun Shi, Li Wang, Zengwu Wang, Bingying Zhou
Summary: Mitochondrial toxicity induced by therapeutic drugs is a major contributor to cardiotoxicity. However, mitochondrial toxicity testing is not currently included in routine cardiac safety screening procedures. This study comprehensively evaluated the mitochondrial responses of adult human primary cardiomyocytes (hPCMs) to a nucleoside analog, RDV, and identified mitochondrial ROS as a primary mediator of RDV-induced cardiotoxicity. The study also demonstrated the utility of hPCMs in the detection of clinically relevant cardiac toxicities and provided a framework for high-throughput screening of cardioprotective agents.
SCIENCE CHINA-LIFE SCIENCES
(2023)
Article
Cell Biology
Xiao-Hui Zhang, Yue Xie, Quan-Gang Xu, Kai Cao, Ke Xu, Zi-Bing Jin, Yang Li, Shi-Hui Wei
Summary: The study found that approximately 46.8% of patients with Ethambutol-induced optic neuropathy (EON) had mitochondrial mutations, with OPA1 mutations and LHON-mtDNA mutations being the most common. Patients with mitochondrial mutations were younger, more likely to have optic disc hyperemia, and had a poorer visual prognosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Chika Takano, Erika Ogawa, Satoshi Hayakawa
Summary: Mitochondrial diabetes (MD) is a genetic defect of beta-cells, characterized by insulin secretion failure due to impaired mitochondrial ATP production. However, insulin resistance (IR) has also been reported as a clinical feature of MD. This review focuses on the pathophysiology of MD caused by mitochondrial DNA mutations and explores the role of IR in this condition.
Article
Toxicology
Aysenur Gunaydin-Akyildiz, Nergis Aksoy, Tugce Boran, Emine Nihan Ilhan, Gul Ozhan
Summary: Favipiravir, used for COVID-19 treatment, has adverse effects on the gastrointestinal system and is associated with QTc prolongation and skin reactions. However, there is insufficient research on the drug's effects at the molecular level, including genotoxic and oxidative stress-inducing effects. The study found that favipiravir induced oxidative stress and DNA damage in cardiomyoblast cells and fibroblastic skin cells.
TOXICOLOGY LETTERS
(2022)
Article
Biochemistry & Molecular Biology
Haruna Tani, Kaori Ishikawa, Hiroaki Tamashiro, Emi Ogasawara, Takehiro Yasukawa, Shigeru Matsuda, Akinori Shimizu, Dongchon Kang, Jun-Ichi Hayashi, Fan-Yan Wei, Kazuto Nakada
Summary: This study established a mouse model carrying a pathogenic mutation in the mitochondrial tRNA gene, associated with metabolic syndrome-like symptoms. The mutation led to decreased protein levels and reduced Complex I activity in mitochondria, providing insights into the molecular basis of mutation-mediated mitochondrial disorders.
NUCLEIC ACIDS RESEARCH
(2022)
Review
Biochemistry & Molecular Biology
Cristina Mazzaccara, Bruno Mirra, Ferdinando Barretta, Martina Caiazza, Barbara Lombardo, Olga Scudiero, Nadia Tinto, Giuseppe Limongelli, Giulia Frisso
Summary: Mitochondrial Cardiomyopathy is a common manifestation of multi-organ Mitochondrial Diseases, presenting diagnostic complexities due to clinical and genetic heterogeneity. Molecular screening plays a crucial role in MD management and identifying disease genes can aid in developing targeted gene panels for accurate diagnosis of patients with clinical suspect of mitochondrial cardiomyopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Giulia Mingrone, Anna Astarita, Anna Colomba, Cinzia Catarinella, Marco Cesareo, Lorenzo Airale, Arianna Paladino, Dario Leone, Fabrizio Vallelonga, Sara Bringhen, Francesca Gay, Franco Veglio, Alberto Milan
Summary: The study provides practical insight on the prevention and management of cardiovascular adverse events during carfilzomib therapy, based on the experience of a specialized center in managing patients with increased cardiovascular risk. They propose a management protocol for cardiovascular adverse events based on presenting symptoms and provide decision-making support for health professionals in selecting the best management strategies.
Article
Cardiac & Cardiovascular Systems
Ayse Tarbin Jannuzzi, Nalan Suemeyra Korkmaz, Aysenur Gunaydin Akyildiz, Sema Arslan Eseryel, Betul Karademir Yilmaz, Buket Alpertunga
Summary: With the development and approval of new proteasome inhibitors, proteasome inhibition is increasingly recognized in cancer therapy. However, these inhibitors can cause cardiotoxicity as a side effect, limiting their effectiveness. This study investigated the molecular mechanisms of cardiotoxicity caused by carfilzomib (CFZ) and ixazomib (IXZ) alone or in combination with dexamethasone (DEX) in a cardiomyocyte model. The findings suggest that the cardiotoxic effect of proteasome inhibitors may be due to stress response and mitochondrial dysfunction.
CARDIOVASCULAR TOXICOLOGY
(2023)
Review
Genetics & Heredity
Lin Fu, Yu-Xin Luo, Ying Liu, Hui Liu, Hong-zhen Li, Yang Yu
Summary: Research has shown that changes and functions of mitochondrial DNA play a crucial role in gamete quality and fertility during gametogenesis and fertilization. Breakthroughs in mitochondrial genome editing offer great potential for the treatment of diseases related to mtDNA mutations.
FRONTIERS IN GENETICS
(2021)
Review
Biology
Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Francesco Domenico Di Blasi, Vincenzo Di Stefano, Antonino Lupica, Filippo Brighina, Rosa Pettinato, Corrado Romano, Carmela Scuderi
Summary: This article describes a novel homoplasmic m.7484A>G mutation in the tRNA(Ser(UCN)) gene, leading to profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, and typical clinical manifestations of MELAS syndrome in a girl. The same mutation was also found in the mother, causing mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss, and myopathy consistent with MERRF syndrome. This is the first anticodon mutation in the tRNA(Ser(UCN)) and the second homoplasmic mutation in the anticodon triplet reported to date.
Article
Biochemistry & Molecular Biology
Junfan Guo, Wenxia Yu, Min Li, Hongyu Chen, Jie Liu, Xiaowen Xue, Jianxiang Lin, Shisheng Huang, Wenjie Shu, Xingxu Huang, Zhen Liu, Shengqi Wang, Yunbo Qiao
Summary: We identified a dsDNA deaminase from Roseburia intestinalis and generated CRISPR-mediated nuclear and mitochondrial CBEs that can perform C-to-T editing at both HC and GC targets. The efficiency of nuclear and mtDNA editing was significantly improved by fusing transactivators to the tail of DddAtox- or riDddAtox-mediated CBEs. We successfully stimulated disease-associated mtDNA mutations in cultured cells and mouse embryos with high conversion frequencies using riDddAtox-based and Rta-assisted mitoCBEs.
Article
Multidisciplinary Sciences
Li Luo, Huining Kang, Xichen Li, Scott A. Ness, Christine A. Stidley
Article
Oncology
Limin Jiang, Fei Guo, Jijun Tang, Shuguan Leng, Scott Ness, Fei Ye, Huining Kang, David C. Samuels, Yan Guo
Article
Substance Abuse
Mate Fischer, Praveen Chander, Huining Kang, Nikolaos Mellios, Jason P. Weick
Summary: The study used an in vitro human pluripotent stem cell-based model to investigate the effects of early, chronic intermittent alcohol exposure on cortical neurons. Results showed that alcohol exposure significantly altered a small number of biological pathways, including cell-type specification, axon guidance, synaptic function, and regional patterning, with a notable upregulation of WNT signaling-associated transcripts.
ALCOHOL-CLINICAL AND EXPERIMENTAL RESEARCH
(2021)
Article
Medicine, Research & Experimental
Filip Matthijssens, Nitesh D. Sharma, Monique Nysus, Christian K. Nickl, Huining Kang, Dominique R. Perez, Beatrice Lintermans, Wouter Van Loocke, Juliette Roels, Sofie Peirs, Lisa Demoen, Tim Pieters, Lindy Reunes, Tim Lammens, Barbara De Moerloose, Filip Van Nieuwerburgh, Dieter L. Deforce, Laurence C. Cheung, Rishi S. Kotecha, Martijn D. P. Risseeuw, Serge Van Calenbergh, Takeshi Takarada, Yukio Yoneda, Frederik W. van Delft, Richard B. Lock, Seth D. Merkley, Alexandre Chigaev, Larry A. Sklar, Charles G. Mullighan, Mignon L. Loh, Stuart S. Winter, Stephen P. Hunger, Steven Goossens, Eliseo F. Castillo, Wojciech Ornatowski, Pieter Van Vlierberghe, Ksenia Matlawska-Wasowska
Summary: The study demonstrates that the upregulation of RUNX2 acts as a dependency factor in high-risk subtypes of human T-ALL by regulating tumor metabolism and leukemic cell migration simultaneously.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Biochemical Research Methods
Quanhu Sheng, Hui Yu, Mingrui Duan, Scott Ness, Jiapeng He, Huining Kang, Limin Jiang, John J. Wyrick, Peng Mao, Yan Guo
Summary: UV radiation can lead to skin cancers by causing DNA damage, and the CPD-Seq technique provides a high-throughput method to study the mutagenesis mechanisms associated with UV damage. CPDSeqer protocol has been developed to assist researchers in processing CPD-Seq data efficiently and effectively.
Article
Biochemical Research Methods
Yan Guo, Hui Yu, Haocan Song, Jiapeng He, Olufunmilola Oyebamiji, Huining Kang, Jie Ping, Scott Ness, Yu Shyr, Fei Ye
Summary: The MetaGSCA tool allows for comprehensive meta-analyses of gene set differential coexpression data, identifying relevant pathways and visualizing them. The tool demonstrated its effectiveness in case studies of chronic kidney disease and non-small cell lung cancer, as well as in a pan-cancer analysis of 11 cancer types. Analysis with randomly generated gene sets showed low false positive rates, indicating the tool's specificity.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Oncology
Philip E. Castle, Walter K. Kinney, Lu Chen, Jane J. Kim, Steven Jenison, Giovanna Rossi, Huining Kang, Jack Cuzick, Cosette M. Wheeler
Summary: In 2019, only 12.7% of women aged 30-64 underwent cotesting and 27.7% underwent cytology at the recommended interval. The observed under- and overscreening could result in increases in cervical cancer incidence and harms and costs, respectively.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
Article
Neurosciences
Shuhua Yuan, Weili Li, Chengbei Hou, Huining Kang, Qingfeng Ma, Xunming Ji, Zhifeng Qi, Ke Jian Liu
Summary: Serum occludin level and baseline NIHSS score are independently associated with hemorrhagic transformation (HT) in acute ischemic stroke patients with reperfusion therapy. The combination of these two variables significantly improves the accuracy of HT prediction.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Psychology, Multidisciplinary
Qi Jin, Tawny W. Boyce, Huining Kang, Laura Nervi, Andrew L. Sussman, Dolores D. Guest
Summary: By using individualized SMS and phone calls, it was found that Spanish-speaking community-dwelling Hispanics can increase their daily intake of fruits and vegetables as well as physical activity. The SMS + PC group was the most effective intervention, showing improvements in both physical activity and vegetable intake among respondents. This demonstrates the feasibility and acceptability of using remote access platforms for health communication strategies with Spanish-speaking participants.
HISPANIC JOURNAL OF BEHAVIORAL SCIENCES
(2021)
Article
Environmental Sciences
Elizabeth M. Harding, Ann L. Gibson, Huining Kang, Micah N. Zuhl, Harsh Sharma, Cindy K. Blair
Summary: The study found that older cancer survivors self-select a faster walking cadence to meet their daily step goals during a light-intensity physical activity intervention, leading to increased steps taken in moderate-intensity physical activity cadence bands.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Cell Biology
Huining Kang, Jakub Fichna, Ksenia Matlawska-Wasowska, Damian Jacenik
Summary: ADGRF5 is overexpressed in the colons of patients with CRC, and the higher expression is associated with more advanced stages of CRC. The expression of ADGRF5 is correlated with multiple signaling pathways and tumor-infiltrating immune cells in the colon, and high expression of ADGRF5 is associated with lower overall survival and disease-free survival.
Article
Oncology
Kathryn J. Brayer, Huining Kang, Adel K. El-Naggar, Simon Andreasen, Preben Homoe, Katalin Kiss, Lauge Mikkelsen, Steffen Heegaard, Daniel Pelaez, Acadia Moeyersoms, David T. Tse, Yan Guo, David Y. Lee, Scott A. Ness
Summary: Adenoid cystic carcinoma (ACC) is a distinct tumor that mainly occurs in salivary or lacrimal glands, but can also develop in other tissues. ACC tumors from different organs have remarkably similar gene expression profiles, indicating a dominant ACC phenotype induced by genetic and epigenetic regulatory events. A gene expression biomarker was validated in a new cohort of ACC tumors, correctly identifying 98% of the patients with poor survival, suggesting the need for a clinical test to identify high-risk patients.
Article
Oncology
Cindy K. Blair, Elizabeth Harding, Charles Wiggins, Huining Kang, Matthew Schwartz, Amy Tarnower, Ruofei Du, Anita Y. Kinney
Summary: A home-based mHealth program to disrupt and replace sedentary time with stepping was feasible among and acceptable to older cancer survivors.
Meeting Abstract
Sport Sciences
Elizabeth M. Harding, Ann L. Gibson, Huining Kang, Micah N. Zuhl, Cindy K. Blair
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2020)
Article
Geriatrics & Gerontology
Weili Li, Zhifeng Qi, Huining Kang, Xuzhen Qin, Haiqing Song, Xueqin Sui, Yi Ren, Xunming Ji, Qingfeng Ma, Ke Jian Liu