Read by QxMD icon Read

mitochondrial copy number

Auke B C Otten, Alphons P M Stassen, Michiel Adriaens, Mike Gerards, Richard G J Dohmen, Adriana J Timmer, Sabina J V Vanherle, Rick Kamps, Iris B W Boesten, Jo M Vanoevelen, Marc Muller, Bert Smeets
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ~25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next generation sequencing to detect point mutations directly in the mtDNA of 3-15 individual mature oocytes and three somatic tissues from eight zebrafish females. Various statistical and biological filters allowed reliable detection of de novo variants with heteroplasmy ≥1.5%. In total, we detected 38 de novo base substitutions, but no insertions or deletions...
October 21, 2016: Genetics
Tong Zhang, Chunqiang Zhang, Xiaomei Fan, Ruilan Li, Jiaxin Zhang
C-type natriuretic peptide (CNP) has been considered as a physiological meiotic inhibitor that stimulates the cGMP production by cumulus cell natriuretic peptide receptor 2 (NPR2), which inhibits oocyte phosphodiesterase type 3 activity and increases cAMP. In this study, we explored the effect of CNP pretreatment on the in vitro maturation (IVM) of bovine oocytes by examining changes in cleavage rate, blastocyst formation, mitochondrial DNA (mtDNA) copy number, reactive oxygen species (ROS) level, glutathione (GSH) content, and redox state...
October 19, 2016: In Vitro Cellular & Developmental Biology. Animal
Ching-Hui Huang, Chen-Ling Kuo, Ching-Shan Huang, Wan-Min Tseng, Ie Bin Lian, Chia-Chu Chang, Chin-San Liu
Exogenous administration of coenzyme Q10 (CoQ10) has been shown in experimental models to have a protective effect against ischemia-reperfusion injury. However, it is unclear whether follow-up plasma CoQ10 concentration is prognostic of left ventricular (LV) performance after primary balloon angioplasty in patients with acute ST segment elevation myocardial infarction (STEMI).We prospectively recruited 55 patients with STEMI who were treated with primary coronary balloon angioplasty. Plasma CoQ10 concentrations were measured before primary angioplasty (baseline) and 3 days, 7 days, and 1 month after STEMI using high-performance liquid chromatography...
August 2016: Medicine (Baltimore)
Xi Ling, Guowei Zhang, Lei Sun, Zhi Wang, Peng Zou, Jianfang Gao, Kaige Peng, Qing Chen, Huan Yang, Niya Zhou, Zhihong Cui, Ziyuan Zhou, Jinyi Liu, Jia Cao, Lin Ao
Polycyclic aromatic hydrocarbons (PAHs) are widespread environmental pollutants that have adverse effects on the male reproductive function. Many studies have confirmed that PAHs preferentially accumulate in mitochondria DNA relative to nuclear DNA and disrupt mitochondrial functions. However, it is rare whether exposure to PAHs is associated with mitochondrial damage and dysfunction in sperm. To evaluate the effects of PAHs on sperm mitochondria, we measured mitochondrial membrane potential (MMP), mitochondrial DNA copy number (mtDNAcn) and mtDNA integrity in 666 individuals from the Male Reproductive Health in Chongqing College Students (MARHCS) study...
October 14, 2016: Environmental Pollution
Hee Jeong Yoo, Mira Park, Soon Ae Kim
OBJECTIVES: Several reports suggest that mitochondrial dysfunction is involved in the pathophysiology of autism spectrum disorders (ASD). Therefore, mitochondrial DNA (mtDNA) copy number, a common biomarker for mitochondrial dysfunction, might be associated with ASD phenotypes. METHODS: Relative mtDNA copy number in the peripheral blood cells of 100 Korean ASD patients and their unaffected sib-pairs was measured by quantitative polymerase chain reaction (qPCR). RESULTS: ASD patients had significantly higher relative mtDNA copy numbers than their unaffected sibs (P = ...
October 14, 2016: World Journal of Biological Psychiatry
Yamilee Hurtado-Roca, Marta Ledesma, Monica Gonzalez-Lazaro, Raquel Moreno-Loshuertos, Patricio Fernandez-Silva, Jose Antonio Enriquez, Martin Laclaustra
Alterations of mitochondrial DNA copy number (mtDNAcn) in the blood (mitochondrial to nuclear DNA ratio) appear associated with several systemic diseases, including primary mitochondrial disorders, carcinogenesis, and hematologic diseases. Measuring mtDNAcn in DNA extracted from whole blood (WB) instead of from peripheral blood mononuclear cells or buffy coat may yield different results due to mitochondrial DNA present in platelets. The aim of this work is to quantify the contribution of platelets to mtDNAcn in whole blood [mtDNAcn(WB)] and to propose a correction formula to estimate leukocytes' mtDNAcn [mtDNAcn(L)] from mtDNAcn(WB)...
2016: PloS One
Xingyun Su, Weibin Wang, Guodong Ruan, Min Liang, Jing Zheng, Ye Chen, Huiling Wu, Thomas J Fahey, Minxin Guan, Lisong Teng
Nuclear genetic alterations have been widely investigated in papillary thyroid cancer (PTC), however, the characteristics of the mitochondrial genome remain uncertain. We sequenced the entire mitochondrial genome of 66 PTCs, 16 normal thyroid tissues and 376 blood samples of healthy individuals. There were 2508 variations (543 sites) detected in PTCs, among which 33 variations were novel. Nearly half of the PTCs (31/66) had heteroplasmic variations. Among the 31 PTCs, 28 specimens harbored a total of 52 somatic mutations distributed in 44 sites...
October 10, 2016: International Journal of Molecular Sciences
Sun Jiji, Zhao Xiaoxu, Qiao Lihua, Mei Shuang, Nie Zhipeng, Zhang Qinghai, Ji Yanchun, Jiang Pingping, Guan Min-Xin
Mitochondrial DNA (mtDNA) mutations cause a variety of mitochondrial DNA-based diseases which have been studied using Lymphoblastoid cell lines (LCLs) and transmitochondrial cybrids. Individual genetic information is preserved permanently in LCLs while the development of transmitochondrial cybrids provide ex-vivo cellular platform to study molecular mechanism of mitochondrial DNA-based diseases. The cytoplasmic donor cells for previous transmitochondrial cybrids come from patient's tissue or platelet directly...
July 20, 2016: Yi Chuan, Hereditas
Shilei Wen, Jinhang Gao, Linhao Zhang, Hongying Zhou, Dingzhi Fang, Shi Feng
In colorectal cancer, no study has been carried out discovering the relationship among p53, mitochondrial transcription factor A (TFAM) expression and change of mitochondrial DNA (mtDNA) copy number. In our study, co-expression of p53 and TFAM was observed in colon adenocarcinoma tissues, paracancerous tissues and 9 colorectal cancer cell lines. Then, a significant linear correlation was established between either p53 or TFAM expression and advanced TNM stage, positive lymph nodes and low 5-year survival rate in patients with colon adenocarcinoma...
October 7, 2016: Oncotarget
Huiwu Tang, Xingmei Zheng, Chuliang Li, Xianrong Xie, Yuanling Chen, Letian Chen, Xiucai Zhao, Huiqi Zheng, Jiajian Zhou, Shan Ye, Jingxin Guo, Yao-Guang Liu
New gene origination is a major source of genomic innovations that confer phenotypic changes and biological diversity. Generation of new mitochondrial genes in plants may cause cytoplasmic male sterility (CMS), which can promote outcrossing and increase fitness. However, how mitochondrial genes originate and evolve in structure and function remains unclear. The rice Wild Abortive type of CMS is conferred by the mitochondrial gene WA352c (previously named WA352) and has been widely exploited in hybrid rice breeding...
October 11, 2016: Cell Research
Lauren M Sparks, Leanne M Redman, Kevin E Conley, Mary-Ellen Harper, Andrew Hodges, Alexey Eroshkin, Sheila R Costford, Meghan E Gabriel, Fanchao Yi, Cherie Shook, Heather H Cornnell, Eric Ravussin, Steven R Smith
CONTEXT: Reduced mitochondrial coupling (P/O) is associated with sedentariness and insulin resistance. Interpreting the physiological relevance of P/O measured in vitro is challenging. OBJECTIVE: To evaluate muscle mitochondrial function and associated transcriptional profiles in non-obese healthy individuals distinguished by their in vivo P/O. DESIGN: Individuals from an ancillary study of CALERIE Phase 2 were assessed at baseline. SETTING: The study was performed at Pennington Biomedical Research Center in Baton Rouge, LA, USA...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
Juan-Ke Xie, Qian Wang, Ting-Ting Zhang, Shen Yin, Cui-Lian Zhang, Zhao-Jia Ge
Controlled ovarian stimulation by exogenous gonadotrophins is a key procedure during the in vitro fertilization cycle to obtain a sufficient number of oocytes in humans. Previous studies demonstrated that repeated superovulation had deleterious effects on the ovaries. However, whether repeated superovulation adversely affects the mitochondrial functions of cumulus cells remains unclear. In this study, mice were divided into three groups: superovulation once (R1); superovulation three times (R3), and superovulation five times (R5)...
October 4, 2016: Scientific Reports
Whitney S Gibbs, Rachel A Weber, Rick G Schnellmann, DeAnna L Adkins
AIMS: Determine the subacute time course of mitochondria disruption, cell death, and inflammation in a rat model of unilateral motor cortical ischemic stroke. MAIN METHODS: Rats received unilateral ischemia of the motor cortex and were tested on behavioral tasks to determine impairments. Animals were euthanized at 24h, 72h and 144h and mRNA expression of key mitochondria proteins and indicators of inflammation, apoptosis and potential regenerative processes in ipsilesion cortex and striatum, using RT-qPCR...
September 27, 2016: Life Sciences
Kyle Thompson, Homa Majd, Christina Dallabona, Karit Reinson, Martin S King, Charlotte L Alston, Langping He, Tiziana Lodi, Simon A Jones, Aviva Fattal-Valevski, Nitay D Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A Barbosa, Michael A Simpson, Charu Deshpande, Sanna Puusepp, Penelope E Bonnen, Richard J Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R S Kunji, Robert W Taylor
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. Here, we describe the identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations...
October 6, 2016: American Journal of Human Genetics
Xin Sun, Justin C St John
Mitochondrial DNA replication is critical for maintaining mtDNA copy number to generate sufficient cellular energy that is required for development and for functional cells. In early development, mtDNA copy number is strictly regulated at different stages, and, as a result, the establishment of the mtDNA set point is required for sequential cell lineage commitment. The failure to establish the mtDNA set point results in incomplete differentiation or embryonic arrest. The regulation of mtDNA copy number during differentiation is closely associated with cellular gene expression, especially with the pluripotency network, and DNA methylation profiles...
October 1, 2016: Biochemical Journal
Clara Valero, María José Buitrago, Maud Gits-Muselli, Marion Benazra, Aude Sturny-Leclère, Samia Hamane, Nicolas Guigue, Stéphane Bretagne, Alexandre Alanio
Pneumocystis jirovecii is an unculturable fungus and the causative agent of Pneumocystis pneumonia, a life-threatening opportunistic infection. Although molecular diagnosis is often based on the detection of mtLSU rRNA mitochondrial gene, the number of copies of mitochondrial genes had not been investigated. We developed and optimized six real-time PCR assays in order to determine the copy number of four mitochondrial genes (mtSSU rRNA, mtLSU rRNA, NAD1, and CYTB) in comparison to nuclear genome (DHPS and HSP70) and tested 84 bronchoalveolar fluids of patients at different stages of the infection...
2016: Frontiers in Microbiology
Hyeon-Jun Shin, Hyuk-Kwon Kwon, Jae-Hyeok Lee, Muhammad Ayaz Anwar, Sangdun Choi
Etoposide (ETO) is a commonly used chemotherapeutic drug that inhibits topoisomerase II activity, thereby leading to genotoxicity and cytotoxicity. However, ETO has limited application due to its side effects on normal organs, especially the kidney. Here, we report the mechanism of ETO-induced cytotoxicity progression in human kidney proximal tubule (HK-2) cells. Our results show that ETO perpetuates DNA damage, activates mitogen-activated protein kinase (MAPK), and triggers morphological changes, such as cell and nuclear swelling...
September 26, 2016: Scientific Reports
Andrea Hesser, Christa Darr, Kris Gonzales, Heather Power, Tawny Scanlan, James Thompson, Charles Love, Bruce Christensen, Stuart Meyers
Semen quality in dogs has not been assessed in a longitudinal study that includes endpoints of female fertility and pregnancy. Although use of artificial insemination with chilled semen is increasingly used in canine reproduction, the resultant level of predictability and odds of fertile matings for dogs is still not fully understood. This research provides, for the first time, comprehensive semen evaluation in a large population of dogs in which fertility has been tracked. Duplicate ejaculates were obtained from 39 Labrador retriever males of the Guide Dogs for the Blind (San Rafael, CA, USA) breeding program...
August 20, 2016: Theriogenology
Oriana Bonanno, Giulietta Romeo, Paola Asero, Franca Maria Pezzino, Roberto Castiglione, Nunziatina Burrello, Giuseppe Sidoti, Giovanni Vanni Frajese, Enzo Vicari, Rosario D'Agata
Severely low sperm motility is a frequent cause of infertility. This pathological condition is multifactorial. However, mechanisms underlying the development of this condition are not completely understood. Single abnormalities have been reported in sperms of patients with asthenozoospermia. In the present study, we characterized, in 22 normozoospermic men and in 37 patients with asthenozoospermia, biochemical, molecular, and genomic abnormalities that frequently occur in sperm of patients with asthenozoospermia...
September 20, 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
Marcia A Ogasawara, Jinyun Liu, Helene Pelicano, Naima Hammoudi, Carlo M Croce, Michael J Keating, Peng Huang
Deletion of chromosome 17p with a loss of p53 is an unfavorable cytogenetic change in chronic lymphocytic leukemia (CLL) with poor clinical outcome. Since p53 affects mitochondrial function and integrity, we examined possible mitochondrial changes in CLL mice with TCL1-Tg/p53(-/-) and TCL1-Tg/p53(+/+) genotypes and in primary leukemia cells from CLL patients with or without 17p-deletion. Although the expression of mitochondrial COX1, ND2, and ND6 decreased in p53(-/-)CLL cells, there was an increase in mitochondrial biogenesis as evidenced by higher mitochondrial mass and mtDNA copy number associated with an elevated expression of TFAM and PGC-1α...
September 17, 2016: Mitochondrion
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"