نتایج جستجو برای: ndna and mtdna mutations

تعداد نتایج: 16853737  

Journal: :Critical Care 2007
Hélène CF Côté Andrew G Day Daren K Heyland

BACKGROUND Mitochondrial dysfunction may be causally related to the pathogenesis of organ failure in critically ill patients. Decreased mitochondrial DNA (mtDNA) levels have been associated with mitochondrial dysfunction and were investigated here in relation to short-term (31-day) survival. METHODS This was a prospective longitudinal cohort study of 28 mechanically ventilated critically ill ...

Journal: : 2023

DNA isolation from blood is a commonly used application to obtain nDNA and mtDNA. It was previously shown that could be performed the pellet obtained after centrifugation of freeze-thawed (FTB), this pretreatment had constructive results on isolation. However, which levels can for pretreatment, their effects are unknown. The aim study determine appropriate show isolated DNA. For purpose, isolat...

2013
Laurent Chatre Miria Ricchetti

Nuclear (nDNA) and mitochondrial DNA (mtDNA) communication is essential for cell function, but it remains unclear whether the replication of these genomes is linked. We inspected human cells with a novel fluorescence in situ hybridization protocol (mitochondrial Transcription and Replication Imaging Protocol) that identifies mitochondrial structures engaged in initiation of mtDNA replication an...

Journal: :Circulation 2016
Jia Zhong Akin Cayir Letizia Trevisi Marco Sanchez-Guerra Xinyi Lin Cheng Peng Marie-Abèle Bind Diddier Prada Hannah Laue Kasey J M Brennan Alexandra Dereix David Sparrow Pantel Vokonas Joel Schwartz Andrea A Baccarelli

BACKGROUND Exposure to black carbon (BC), a tracer of vehicular-traffic pollution, is associated with increased blood pressure (BP). Identifying biological factors that attenuate BC effects on BP can inform prevention. We evaluated the role of mitochondrial abundance, an adaptive mechanism compensating for cellular-redox imbalance, in the BC-BP relationship. METHODS AND RESULTS At ≥ 1 visits ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2006
Zejia Yang Lisa M Schumaker Merrill J Egorin Eleanor G Zuhowski Zhongmin Guo Kevin J Cullen

PURPOSE Cisplatin adducts to nuclear DNA (nDNA) are felt to be the molecular lesions that trigger apoptosis, but the mechanism linking nDNA adduct formation and cell death is unclear. Some literature in the last decade has suggested a possible direct effect of cisplatin on mitochondria independent of nDNA interaction. In this study, we define separately the sequelae of cisplatin interactions wi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
M Hirano

S ince the initial identification of pathogenic mutations in 1988, more than 100 point mutations and numerous largescale deletions of human mtDNA have been associated with a wide range of clinical phenotypes (1). The development, by King and Attardi, of cells in culture called cybrids (cytoplasmic hybrids) provided an in vitro method to study mtDNA mutations against a uniform nuclear (nDNA) bac...

Journal: :Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2011
Josef Finsterer

Myopathy, encephalopathy, lactacidosis and stroke-like episodes (MELAS)-syndrome is a heterogeneous respiratory-chain-disorder (RCD) due to point mutations in mitochondrial genes (m.583G>A, m.1642G>A, m.3243A>G, m.3252A>G, m.3260A >G, m.3271T>C, m.3291T>C, m.5814A>G, m.9957T>C, m.13513G>A), due to mtDNA deletions, or due to nDNA mutations, such as in POLG1.1 Like most of the RCDs, MELAS is a mu...

2010
Yi Zhang Lu Zhang Lan Zhang Jie Bai HongYan Ge Ping Liu

PURPOSE To determine if there is increased mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) damage with age in the lenses of rats. We also explored the immunolocalization of 8-oxoguanine DNA glycosylase 1 (OGG1) and AP endonuclease 1 (APE1) in the lens and studied three of the predominant base excision repair (BER) enzymes: OGG1, APE1, and DNA polymerase gamma (Polgamma). METHODS The methods ...

2012
Inna Shokolenko Susan LeDoux Glenn Wilson Mikhail Alexeyev

In mammalian cells, genetic information is stored in two locations: in the nucleus and in mitochondria. Nuclear DNA (nDNA) is organized into chromosomes of which two sets are present per cell: one paternal, and one maternal. In contrast, mitochondrial DNA (mtDNA) inheritance is (with few exceptions) exclusively maternal, and is highly redundant, typically a few hundred to a few thousand copies ...

2016
Ayman W. El-Hattab Fernando Scaglia

Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mito...

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