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JOURNAL ARTICLE
Xuehan Zhuang, Rui Ye, Yong Zhou, Matthew Yibo Cheng, Heyang Cui, Longlong Wang, Shuangping Zhang, Shubin Wang, Yongping Cui, Weimin Zhang
BACKGROUND: Mitochondria play essential roles in tumorigenesis; however, little is known about the contribution of mitochondrial DNA (mtDNA) to esophageal squamous cell carcinoma (ESCC). Whole-genome sequencing (WGS) is by far the most efficient technology to fully characterize the molecular features of mtDNA; however, due to the high redundancy and heterogeneity of mtDNA in regular WGS data, methods for mtDNA analysis are far from satisfactory. METHODS: Here, we developed a likelihood-based method dMTLV to identify low-heteroplasmic mtDNA variants...
April 2, 2024: Genome Medicine
#22
Preethi Krishnan, Renato Chaves Souto Branco, Staci A Weaver, Garrick Chang, Chih-Chun Lee, Farooq Syed, Carmella Evans-Molina
We previously showed that miR-146a-5p is upregulated in pancreatic islets treated with pro-inflammatory cytokines. Others have reported that miR-146a-5p overexpression is associated with β cell apoptosis and impaired insulin secretion. However, the molecular mechanisms mediating these effects remain elusive. To investigate the role of miR-146a-5p in β cell function, we developed stable MIN6 cell lines to either overexpress or inhibit the expression of miR-146a-5p. Monoclonal cell populations were treated with pro-inflammatory cytokines (IL-1β, IFNγ, and TNFα) to model T1D in vitro ...
March 19, 2024: bioRxiv
#23
JOURNAL ARTICLE
Xuejiao Yu, Sheng Li, Qinxian Guo, Jianhang Leng, Yu Ding
PURPOSE: This study aimed to examine the frequencies of mt-tRNAGlu variants in 180 pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls. METHODS: Sanger sequencing was performed to screen for mt-tRNAGlu variants. These mitochondrial DNA (mtDNA) pathogenic mutations were further assessed using phylogenetic conservation and haplogroup analyses. We also traced the origins of the family history of probands carrying potential pathogenic mtDNA mutations...
2024: Pharmacogenomics and Personalized Medicine
#24
JOURNAL ARTICLE
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Edward J Higginbotham, Ritesh Thapa, Tarannum Behlim, Sabrina Aimola, Lauren Switzer, Pamela Ng, John Wei, Prakroothi S Danthi, Giovanna Pellecchia, Sylvia Lamoureux, Karen Ho, Sergio L Pereira, Jill de Rijke, Wilson W L Sung, Alireza Mowjoodi, Jennifer L Howe, Thomas Nalpathamkalam, Roozbeh Manshaei, Siavash Ghaffari, Joseph Whitney, Rohan V Patel, Omar Hamdan, Rulan Shaath, Brett Trost, Shannon Knights, Dawa Samdup, Anna McCormick, Carolyn Hunt, Adam Kirton, Anne Kawamura, Ronit Mesterman, Jan Willem Gorter, Nomazulu Dlamini, Daniele Merico, Murto Hilali, Kyle Hirschfeld, Kritika Grover, Nelson X Bautista, Kara Han, Christian R Marshall, Ryan K C Yuen, Padmaja Subbarao, Meghan B Azad, Stuart E Turvey, Piush Mandhane, Theo J Moraes, Elinor Simons, George Maxwell, Michael Shevell, Gregory Costain, Jacques L Michaud, Fadi F Hamdan, Julie Gauthier, Kevin Uguen, Dimitri J Stavropoulos, Richard F Wintle, Maryam Oskoui, Stephen W Scherer
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 gene had the most P/LP SNVs. We also analyzed two pediatric control cohorts (n = 203 trios and n = 89 sib-pair families) to provide a baseline for de novo mutation rates and genetic burden analyses, the latter of which demonstrated associations between de novo deleterious variants and genes related to the nervous system...
March 29, 2024: Nature Genetics
#25
REVIEW
Christopher J Record, Mary M Reilly
Whole-genome sequencing (WGS) has recently become the first-line genetic investigation for many suspected genetic neurological disorders. While its diagnostic capabilities are innumerable, as with any test, it has its limitations. Clinicians should be aware of where WGS is extremely reliable (detecting single-nucleotide variants), where its reliability is much improved (detecting copy number variants and small repeat expansions) and where it may miss/misinterpret a variant (large repeat expansions, balanced structural variants or low heteroplasmy mitochondrial DNA variants)...
March 28, 2024: Practical Neurology
#26
JOURNAL ARTICLE
Yasmyn E Winstanley, Jun Liu, Deepak Adhikari, Macarena B Gonzalez, Darryl L Russell, John Carroll, Rebecca L Robker
Mitochondria undergo a myriad of changes during pre-implantation embryo development, including shifts in activity levels and mitochondrial DNA (mtDNA) replication. However, how these distinct aspects of mitochondrial function are linked and their responsiveness to diverse stressors is not well understood. Here, we show that mtDNA content increased between 8-cell embryos and the blastocyst stage, with similar copy numbers per cell in the inner cell mass (ICM) and trophectoderm (TE). In contrast, mitochondrial membrane potential (MMP) was higher in TE than ICM...
March 16, 2024: Genes
#27
REVIEW
Hannah E Snyder, Puneet Jain, Rajesh RamachandranNair, Kevin C Jones, Robyn Whitney
Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG. A myriad of aetiologies are associated with the development of IESS; broadly, 60% of cases are thought to be structural, metabolic or infectious in nature, with the remainder genetic or of unknown cause. Epilepsy genetics is a growing field, and over 28 copy number variants and 70 single gene pathogenic variants related to IESS have been discovered to date...
February 21, 2024: Genes
#28
JOURNAL ARTICLE
Dan He, Huan Liu, Yijing Zhao, Wenming Wei, Qingqing Cai, Sirong Shi, Xiaoge Chu, Na Zhang, Xiaoyue Qin, Yumeng Jia, Yan Wen, Bolun Cheng, Feng Zhang
BACKGROUND: Bone mineral density (BMD) is a major predictor of osteoporotic fractures, and previous studies have reported the effects of mitochondrial dysfunction and lifestyle on BMD, respectively. However, their interaction effects on BMD are still unclear. Therefore, we aimed to investigate the possible interaction of mitochondrial DNA (mtDNA) and common lifestyles contributing to osteoporosis. METHODS: Our analysis included 119,120 white participants (Nfemale=65,949 and Nmale=53,171) from the UK Biobank with heel BMD phenotype data...
March 27, 2024: Journal of Clinical Endocrinology and Metabolism
#29
JOURNAL ARTICLE
Christopher D Putnam
DNA content measurement by fluorescence-assisted cell sorting (FACS) provides information on cell cycle progression and DNA content variability. Saccharomyces cerevisiae mutants with DNA content variability that was reduced relative to wild-type strains had defects in mitochondrial DNA (mtDNA) maintenance and mitochondrial gene expression and were correlated with strains found to lack mtDNA ([ rho 0 ] cells) by genome sequencing and fluorescence microscopy. In contrast, mutants with increased variability had defects in cell cycle progression, which may indicate a loss of coordination between mtDNA and nuclear DNA replication...
2024: microPublication. Biology
#30
JOURNAL ARTICLE
Wei Gu, Mimi Wu, Shihe Cui, Jinhua Bo, Hao Wu
BACKGROUND: Currently, the role of melatonin (MT) in neuronal damage remains unclear and this study aimed to explore the protective effects of MT on neurons in an in vitro cell injury model. METHODS: The Sprague Dawley (SD) rat traumatic brain injury (TBI) model was prepared, and brain tissue extract (BTE) from the injured area were generated. To establish a cell injury model in vitro , the BTE was added to the culture medium during the neuron culture process. MT was introduced into the culture medium of the cell injury model to observe its protective effects on neurons...
March 2024: Discovery Medicine
#31
REVIEW
Isadora Oliveira Ansaloni Pereira, Nayara Nascimento Toledo Silva, Angelica Alves Lima, Glenda Nicioli da Silva
Cervical cancer is the fourth most commonly diagnosed cancer in women and is considered a preventable disease, as vaccination and screening programs effectively reduce its incidence and mortality rates. Disease physiopathology and malignant cell transformation is a complex process, but it is widely known that high-risk HPV (hrHPV) infection is a necessary risk factor for cancer development. Mitochondria, cell organelles with important bioenergetic and biosynthetic functions, are important for cell energy production, cell growth, and apoptosis...
March 24, 2024: Environmental and Molecular Mutagenesis
#32
JOURNAL ARTICLE
Chun-Wei Chien, Yen-An Tang, Shuen-Lin Jeng, Hsien-An Pan, H Sunny Sun
STUDY QUESTION: Do embryos with longer telomere length (TL) at the blastocyst stage have a higher capacity to survive after frozen-thawed embryo transfer (FET)? SUMMARY ANSWER: Digitally estimated TL using low-pass whole genome sequencing (WGS) data from the preimplantation genetic testing for aneuploidy (PGT-A) process demonstrates that blastocyst TL is the most essential factor associated with likelihood of implantation. WHAT IS KNOWN ALREADY: The lifetime TL is established in the early cleavage cycles following fertilization through a recombination-based lengthening mechanism and starts erosion beyond the blastocyst stage...
2024: Human Reproduction Open
#33
JOURNAL ARTICLE
Jing Tang, Wenzhu Dong, Dan Wang, Qin Deng, Honggang Guo, Guibao Xiao
The imbalance between pro-inflammatory M1 and anti-inflammatory M2 macrophages plays a critical role in the pathogenesis of sepsis-induced acute lung injury (ALI). Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α) may modulate macrophage polarization toward the M2 phenotype by altering mitochondrial activity. This study aimed to investigate the role of the PGC-1α agonist pioglitazone (PGZ) in modulating sepsis-induced ALI. A mouse model of sepsis-induced ALI was established using cecal ligation and puncture (CLP)...
2024: Brazilian Journal of Medical and Biological Research
#34
JOURNAL ARTICLE
Yi Jiang, Si Cheng, Yanfeng Shi, Zhe Xu, Huihui Wang, Yanran Li, Yang Liu, Zixiao Li, Yong Jiang, Xia Meng, Shanshan Cheng, Hao Li, Chaolong Wang, Yongjun Wang
BACKGROUND: Mitochondrial DNA copy number (mtDNA-CN) is associated with the severity and mortality in patients with stroke, but the associations in different stroke subtypes remain unexplored. METHODS: We conducted an observational prospective cohort analysis on patients with ischemic stroke or transient ischemic attack enrolled in the Third China National Stroke Registry. We applied logistic models to assess the association of mtDNA-CN with functional outcome (modified Rankin Scale score, 3-6 versus 0-2) and Cox proportional hazard models to assess the association with stroke recurrence (treating mortality as a competing risk) and mortality during a 12-month follow-up, adjusting for sex, age, physical activity, National Institutes of Health Stroke Scale at admission, history of stroke and peripheral artery disease, small artery occlusion, and interleukin-6...
March 21, 2024: Stroke; a Journal of Cerebral Circulation
#35
JOURNAL ARTICLE
Lilu Liu, Kaiyuan Zhao, Zhen Liu
Abscisic acid (ABA) is an important plant hormone with a variety of physiological functions such as regulating plant growth and helping plants to resist an adverse growth environment. However, at present, the ABA yield of heterologous biosynthesis by metabolic engineering is still low for industrial production. Therefore, five Botrytis cinerea genes ( bcaba1 , bcaba2 , bcaba3 , bcaba4, and bccpr1 ) related to ABA biosynthesis were expressed in Yarrowia lipolytica PO1h; its ABA production was 24.33 mg/L. By increasing the copy number of IDI and ERG12S , ERG20Y MT , and bcaba3 , bcaba1 genes, the yield of ABA was increased to 54...
March 20, 2024: Journal of Agricultural and Food Chemistry
#36
JOURNAL ARTICLE
Margalida Puigròs, Anna Calderon, Daniel Martín-Ruiz, Mònica Serradell, Manel Fernández, Amaia Muñoz-Lopetegi, Gerard Mayà, Joan Santamaria, Carles Gaig, Anna Colell, Eduard Tolosa, Alex Iranzo, Ramon Trullas
BACKGROUND: Idiopathic rapid eye movement (REM) sleep behaviour disorder (IRBD) represents the prodromal stage of Lewy body disorders (Parkinson's disease (PD) and dementia with Lewy bodies (DLB)) which are linked to variations in circulating cell-free mitochondrial DNA (cf-mtDNA). Here, we assessed whether altered cf-mtDNA release and integrity are already present in IRBD. METHODS: We used multiplex digital PCR (dPCR) to quantify cf-mtDNA copies and deletion ratio in cerebrospinal fluid (CSF) and serum in a cohort of 71 participants, including 1) 17 patients with IRBD who remained disease-free (non-converters), 2) 34 patients initially diagnosed with IRBD who later developed either PD or DLB (converters), and 3) 20 age-matched controls without IRBD or Parkinsonism...
March 18, 2024: EBioMedicine
#37
JOURNAL ARTICLE
Olfa Alila-Fersi, Amel Tej, Marwa Maalej, Marwa Kharrat, Lamia Boughamoura, Jihen Chouchen, Abdelaziz Tlili, Faiza Fakhfakh
BACKGROUND: Congenital scoliosis (CS) is a spinal disorder caused by genetic-congenital vertebral malformations and may be associated with other congenital defects or may occur alone. It is genetically heterogeneous and numerous genes contributing to this disease have been identified. In addition, CS has a wide range of phenotypic and genotypic variability, which has been explained by the intervention of genetic factors like modifiers and environment genes. The aim of the present study was to determine the possible cause of CS in a Tunisian patient and to examine the association between mtDNA mutations and mtDNA content and CS...
March 16, 2024: Gene
#38
JOURNAL ARTICLE
Zhongyi Zhang, Ye Yuan, Xingyu Zhang, Lingui Gu, Yuguang Tang, Yutong Zhao, Jinyu Dai, Yihao Tao, Zongyi Xie
Mitochondrial dysfunction and excessive reactive oxygen species production due to impaired mitochondrial biogenesis have been proven to exacerbate secondary brain injury after intracerebral hemorrhage (ICH). The G-protein-coupled receptor 39 (GPR39) agonist TC-G 1008 has been shown to exert anti-oxidative stress effect in acute hypoxic brain injury. Herein, our study aimed to investigate the potential effects of TC-G 1008 on neuronal mitochondrial biogenesis and antioxidative stress in a mouse model of ICH and explore the underlying mechanisms...
March 15, 2024: Translational Stroke Research
#39
JOURNAL ARTICLE
Song-Hee Lee, Xiao-Han Li, Qin-Yue Lu, Cheng-Lin Zhan, Ji-Dam Kim, Gyu-Hyun Lee, Jae-Min Sim, Xiang-Shun Cui
Nobiletin is a natural flavonoid found in citrus fruits with beneficial effects, including anti-inflammatory, anti-cancer and anti-oxidation effects. The aim of this study was to investigate whether nobiletin improves mitochondrial function in porcine oocytes and examine the underlying mechanism. Oocytes enclosed by cumulus cells were cultured in TCM-199 for 44 h with 0.1% dimethyl sulfoxide (control), or supplemented with 5, 10, 25, and 50 μM of nobiletin (Nob5, Nob10, Nob25, and Nob50, respectively)...
March 5, 2024: Biochemical and Biophysical Research Communications
#40
JOURNAL ARTICLE
Małgorzata Wojtkowska, Natalia Karczewska, Klaudia Pacewicz, Andrzej Pacak, Piotr Kopeć, Jolanta Florczak-Wyspiańska, Karolina Popławska-Domaszewicz, Tomasz Małkiewicz, Bartosz Sokół
Parkinson's disease (PD) is one of the most common neurodegenerative disorders globally and leads to an excessive loss of dopaminergic neurons in the substantia nigra of the brain. Circulating cell-free DNA (ccf-DNA) are double-stranded DNA fragments of different sizes and origins that are released into the serum and cerebrospinal fluid (CSF) due to cell death (i.e., necrosis and apoptosis) or are actively released by viable cells via exocytosis and NETosis. Using droplet digital polymerase chain reaction (ddPCR), we comprehensively analyzed and distinguished circulating cell-free mitochondrial DNA (ccf mtDNA) and circulating cell-free nuclear DNA (ccfDNA) in the serum and CSF of PD and control patients...
February 29, 2024: International Journal of Molecular Sciences
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