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Dissertations / Theses on the topic 'Mitochondrial DNA depletion syndrome'

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Published: 4 June 2021

Last updated: 9 March 2023

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1

Lintell, Nicholas Adrian, and n/a. "DNA Aberrations in Atypical Cancer Cohorts." Griffith University. School of Biomolecular and Biomedical Science, 2006. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20061009.164402.

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The incidence of Squamous Cell Carcinoma is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 45% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis lesion and with a small but significant chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in gen

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2

Lintell, Nicholas Adrian. "DNA Aberrations in Atypical Cancer Cohorts." Thesis, Griffith University, 2006. http://hdl.handle.net/10072/365589.

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The incidence of Squamous Cell Carcinoma is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 45% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis lesion and with a small but significant chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in gen

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3

Martorano, Laura. "The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3424883.

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Mitochondrial DNA depletion syndromes (MDS) are a group of rare autosomal recessive disorders with early onset and no cure available. MDS are caused by mutations in several nuclear genes, involved in mitochondrial DNA (mtDNA) maintenance, characterized by a strong reduction of mtDNA copy number in affected tissues and severe defects in mitochondrial functionality. Mutations in MPV17, a nuclear gene encoding a mitochondrial inner membrane protein, have been specifically associated with hepatocerebral forms of MDS. However, MPV17 protein function is still unclear, although it has been suggested

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4

Komulainen, T. (Tuomas). "Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity." Doctoral thesis, Oulun yliopisto, 2015. http://urn.fi/urn:isbn:9789526207230.

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Abstract Mitochondrial DNA depletion and deletions are related to mutations in the nuclear genes responsible for replication and maintenance of mitochondrial DNA (mtDNA). The POLG1 gene encodes the enzyme responsible for replication of mtDNA. A particular feature of the POLG1 mutations is an increased risk of acute liver failure (ALF) upon exposure to sodium valproate (VPA), but the pathomechanism is not resolved. The present work studies the molecular genetic aetiology and clinical phenotypes associated with mtDNA depletion and deletion. Another objective was an investigation of clinical phen

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5

Hine, Donna Louise. "Mitochondrial DNA depletion and insulin secretion." Thesis, University of Newcastle upon Tyne, 2013. http://hdl.handle.net/10443/1906.

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Type 2 diabetes is an age-related condition and is characterised by a progressive decline in insulin secretion. Mitochondria play a key role in energy generation for insulin secretion. We previously reported an age-related decline in mitochondrial DNA (mtDNA) copy number in isolated human islets. TFAM, mtDNA Transcription Factor A, regulates mtDNA transcription and mtDNA copy number. Aims: We aimed to replicate the percentage decrease in mtDNA copy number that we observed with ageing in human islets, and to explore whether this affected mitochondrial function and insulin secretion. Methods: Tw

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6

Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/1/Lomartire_Laura_tesi.pdf.

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Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th

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Lomartire, Laura <1982&gt. "Down Syndrome: Neuropsychological phenotype and mitochondrial DNA." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4552/.

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Introduction. Down Syndrome (DS) is the most known autosomal trisomy, due to the presence in three copies of chromosome 21. Many studies were designed to identify phenotypic and clinical consequences related to the triple gene dosage. However, the general conclusion is a senescent phenotype; in particular, the most features of physiological aging, such as skin and hair changes, vision and hearing impairments, thyroid dysfunction, Alzheimer-like dementia, congenital heart defects, gastrointestinal malformations, immune system changes, appear in DS earlier than in normal age-matched subjects. Th

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8

van, der Watt George Frederick. "Whole Blood Mitochondrial DNA Depletion in Human Immunodeficiency Virus-Infected Children." Master's thesis, University of Cape Town, 2010. http://hdl.handle.net/11427/2705.

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Background: Nucleoside reverse transcriptase inhibitors (NRTIs) interfere with mitochondrial DNA polymerase gamma causing significant toxic effects, including fatal lactic acidosis. Little is known about mitochondrial DNA (mtDNA) in human immunodeficiency virus (HIV) infected children who face a lifetime exposure to these agents. We performed a cross sectional observation of mtDNA levels in whole blood in a pediatric population to ascertain the relationship between mtDNA, NRTI regimens and parameters of HIV-infection severity. Methods: Whole blood mt:nDNA ratios were determined by real-time PC

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9

Rusanen, H. (Harri). "Pathophysiological and clinical consequences of the mitochondrial DNA 3243A→G mutation." Doctoral thesis, University of Oulu, 2000. http://urn.fi/urn:isbn:9514255380.

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Abstract This study describes clinical and biochemical consequences of the 3243A→G mutation in the tRNALeu(UUR) gene of the mitochondrial DNA. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) is usually caused by this mutation. Demyelinating polyneuropathy was observed as a novel feature in a patient with the mutation. Based on electrodiagnostic examination the polyneuropathy was defined as being of the demyelinating, mixed (motor more than sensory) type. In a 1 year follow-up an approximately 7% reduction in both the motor and sensory nerve conduct

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10

Cupp, John D. "Characterization of the Cellular and Organellar Dynamics that Occur with a Partial Depletion of Mitochondrial DNA when Arabidopsis Organellar DNA Polymerase IB is Mutated." BYU ScholarsArchive, 2012. https://scholarsarchive.byu.edu/etd/3747.

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Plant mitochondrial genomes are large and complex, and the mechanisms for maintaining mitochondrial DNA (mtDNA) remain unclear. Arabidopsis thaliana has two DNA polymerase genes, polIA and polIB, that have been shown to be dual localized to mitochondria and chloroplasts but are unequally expressed within primary plant tissues involved in cell division or cell expansion. PolIB expression is observed at higher levels in both shoot and root apexes, suggesting a possible role in organelle DNA replication in rapidly dividing or expanding cells. It is proposed that both polIA and polIB are required

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11

Wheeler, Joel. "USING SOUTHERN BLOTTING AND NON-RADIOACTIVE PROBE HYBRIDIZATION AS A TOOL TO MEASURE 2’,3’-DIDEOXYCYTIDINE INDUCED MITOCHONDRIAL DNA DEPLETION IN HUMAN CELL LINES." OpenSIUC, 2019. https://opensiuc.lib.siu.edu/theses/2637.

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Mitochondria are membrane bound organelles important for energy production in respiring cells through the process of oxidative phosphorylation. They have their own multi-copied mitochondrial DNA (mtDNA) genome separate from that in the nucleus that is needed for mitochondria to function properly and can exist in both wild type and mutant forms in the same cell. The integrity of the mtDNA is therefore of vital importance for the survival of the organism and as such understanding the mechanisms of mtDNA maintenance is relevant to human health and disease. This study employs a Southern blotting a

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12

Järviaho, T. (Tekla). "Germline predisposition to childhood acute lymphoblastic leukemia and bone marrow failure, and mitochondrial DNA variants in leukemia." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220437.

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Abstract Childhood acute lymphoblastic leukemia (ALL) is the most common cancer in children. The overall survival rate has reached to 90%. However, ALL still presents a significant disease burden and is a major cause for deaths in children. Recently, both inherited germline variants related to ALL susceptibility and somatic genetic variants forming novel subgroups of ALL have been discovered. In this thesis two families with familial ALL were studied. Constitutional heterozygous microdeletion at chromosome 7p12.1p13, including IKZF1, was discovered in the first family with intellectual impairm

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13

Schubert, Susanne, Sandra Heller, Birgit Löffler, Ingo Schäfer, Martina Seibel, Gaetano Villani, and Peter Seibel. "Generation of rho zero cells." Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-167888.

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Human mitochondrial DNA (mtDNA) is located in discrete DNA-protein complexes, so called nucleoids. These structures can be easily visualized in living cells by utilizing the fluorescent stain PicoGreen®. In contrary, cells devoid of endogenous mitochondrial genomes (ρ0 cells) display no mitochondrial staining in the cytoplasm. A modified restriction enzyme can be targeted to mitochondria to cleave the mtDNA molecules in more than two fragments, thereby activating endogenous nucleases. By applying this novel enzymatic approach to generate mtDNA-depleted cells the destruction of mitochondrial nu

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14

Pätsi, J. (Jukka). "Catalytic core of respiratory chain NADH-ubiquinone oxidoreductase:roles of the ND1, ND6 and ND4L subunits and mitochondrial disease modelling in Escherichia coli." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294723.

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Abstract NADH-ubiquinone oxidoreductase (complex I) is one of the largest enzymes in mammals. Seven (ND1-ND6 and ND4L) of its 45 subunits are encoded in mitochondrial DNA, mutations of which are usually behind mitochondrial diseases such as Leber hereditary optic neuropathy (LHON) and MELAS-syndrome. The rest of the genes are located in the nucleus. Bacterial homologs of complex I (NDH-1) consist of only 13–14 subunits, comprising the catalytic core of the enzyme. These complexes are simpler but perform a similar function. Escherichia coli NDH-1 was employed here to generate amino acid r

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15

Duarte, Sara Filipa Rosa. "Genotype-phenotype correlation in mitochondrial depletion syndrome due to DGUOK deficiency." Master's thesis, 2014. http://hdl.handle.net/10316/30981.

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Trabalho final de mestrado integrado em Medicina (Bioquímica), apresentado à Faculdade de Medicina da Universidade de Coimbra<br>O défice da desoxiguanosina cinase (dGUOK), causado por mutações no gene DGUOK, leva ao desenvolvimento da forma hepatocerebral da Síndrome de depleção de DNA mitocondrial (MDS), ligadas a uma redução drástica no número de cópias do genoma mitocondrial (mtDNA), associada a elevada mortalidade e sem estratégias terapêuticas disponíveis, na criança. Apesar de se terem vindo a identificar novas mutações no gene DGUOK ao longo dos últimos anos, uma correlação genótipo-f

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16

TSUN-YING, HUANG, and 黃純英. "Mitochondrial DNA Variations in Sudden Infant Death Syndrome." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/84094129636137566490.

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碩士<br>臺北醫學大學<br>醫學技術學系<br>93<br>Abstract The Sudden Infant Death Syndrome (SIDS) is one kind of leading cause of postneonatal infant death which also rises a difficult problem between the legal and medical systems. SIDS is defined as the sudden death of an infant less than 12 month old that remains unexplained after a complete clinical review, autopsy and death scene investigation. Despite the fact that many hypotheses have been proposed, the causes of SIDS are still uncertain. Although a number of coding region mtDNA mutations involving SIDS have been reported, the role of mtDNA variations in

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17

高淑慧. "= Mitochondrial DNA mutation and depletion in human sperm with declined motility and fertility." Thesis, 1998. http://ndltd.ncl.edu.tw/handle/21522626606238103090.

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18

Ching-Hui, Huang, and 黃靜惠. "Low Copy Number of Mitochondrial DNA Is Associated with Metabolic Syndrome." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/83313874695102835183.

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碩士<br>長榮大學<br>醫學研究所<br>97<br>Objective: The metabolic syndrome (MetS) is a group of risk factors of metabolic origin that are accompanied by increased risk for type 2 diabetes mellitus and cardiovascular disease. One of the defects in MetS and its associated diseases is excess cellular oxidative stress and mitochondrial alternation. A low copy number of mitochondrial DNA (mtDNA) has been found to be associated with enhanced risk for the development of diabetes and cardiovascular disease. Therefore, the objective of this study was to clarify the characteristics of mtDNA copy number of leukocyte

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19

CHIN, WANG LI, and 王儷瑾. "ALTERATIONS OF BIOGENESIS GENES IN RESPONSE TO DEPLETION OF MITOCHONDRIAL DNA IN HUMAN 143B CELLS." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/56607578934734061516.

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碩士<br>長庚大學<br>醫學生物技術研究所<br>96<br>Mitochondrial biogenesis is regulated by the coordinated expression of nuclear genome and mitochondrial genome. Among them, three important transcriptional factors are mitochondrial transcription factor A (TFAM), nuclear respiratory factors (NRFs) and PPARγ coactivator-1α (PGC-1α). TFAM, which is localized in the mitochondria, regulates factors involving the replication and transcription of mtDNA. NRFs and PGC-1α, which are transcriptional factors in the nucleus, can interact and activate TFAM, and subsequently regulate the mitochondrial biogenesis genes. P

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20

Hong, Chiung-Hui, and 洪瓊慧. "Effects of Mitochondrial DNA Depletion and 4977 bp Deletion on the Apoptotic Behaviors of Human Cells." Thesis, 2001. http://ndltd.ncl.edu.tw/handle/27311741329012720124.

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碩士<br>國立陽明大學<br>生物化學研究所<br>89<br>Abstract The pathology of mitochondrial encephalomyopathies is associated with abnormal cell loss of neurons and muscle fibers. Is it possible that mitochondrial respiratory chain dysfunction results in cell loss, which is commonly found in patients with encephalomyopathies? The respiratory chain impairment may be caused by DNA mutations in mitochondrial or nuclear genome. Among the mitochondrial DNA (mtDNA) mutations associated with mitochondrial diseases, 4977-bp deletion is the most common one. In this study, the effects of mtDNA depletion on the

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Yen, Ju-Chen, and 顏汝珍. "Studies on the Effects of Mitochondrial DNA Depletion on the Sensitivity of Human Cells to Apoptosis." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/31018427909023504623.

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碩士<br>國立陽明大學<br>生化暨分子生物研究所<br>95<br>Mitochondria are the major energy suppliers in mammalian cells. They are also important initiators and regulators in apoptosis. Many studies have suggested mitochondrial DNA (mtDNA) alterations may affect susceptibility of human cells to apoptosis. However, whether mtDNA depletion affects the sensitivity of human cells to drug-induced apoptosis is still controversial. In this study, I used human osteosarcoma 143B cell line as the experimental model to investigate the effect of mtDNA depletion on the response of cells to doxorubicin or staurosporine-induc

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22

Ni, Chyi-Yao, and 倪其堯. "Mitochondrial DNA mutation and oxidative damages in the pathogenesis of Down's syndrome." Thesis, 2004. http://ndltd.ncl.edu.tw/handle/83947040526306975910.

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碩士<br>臺北醫學大學<br>生物醫學技術研究所<br>92<br>Down’s syndrome is the most common disease of chromosomal aberration on cytogenetics. The major form of chromosomal aberration is trisomy 21, an extra chromosome of chromosome 21. There are many studies in Down’s syndrome including clinical pathology, cytogenetics and molecular genetics. It is distinct why the germ cells are susceptible to trisomy formation at meiosis or mitosis stage. Recently, some researches reported that oxidative stress might play some roles in the formation of trisomy. Mitochondria are the major organelles that produce reactive ox

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23

Hsieh, Rong-Hong, and 謝榮鴻. "Studies on multiple mutations of mitochondrial DNA associated with the MELAS syndrome and human aging." Thesis, 1997. http://ndltd.ncl.edu.tw/handle/66733499378791003172.

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24

Prosser, Debra Olive. "Mitochondrial DNA (mtDNA) mutations in patients with suspected myoclonic epilepsy and ragged red muscle fibres (MERRF), Leigh syndrome (LS), and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)." Diss., 2001. http://hdl.handle.net/2263/30471.

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Mitochondrial disorders are considered to be the most common cause of metabolic abnormalities in the paediatric neurology population (Zeviani et al., 1996). These authors reported that the phenotypes observed in 25-30% of the paediatric patients in their neurology clinics were due to a mitochondrial aetiology. The genetic aetiology in an equivalently affected paediatric population in South Africa is currently unknown. This study investigated the possibility that reported mutations could account for the mitochondrial phenotypes observed in the South African population. It focussed on the most f

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25

Lu, Ching-You, and 盧青佑. "Association of Imbalance of Free Radical Scavenging Enzymes with Mitochondrial DNA Mutations in Fibroblasts of Elderly Subjects and Patients with CPEO Syndrome." Thesis, 1999. http://ndltd.ncl.edu.tw/handle/28323173505249952059.

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博士<br>國立陽明大學<br>生物化學研究所<br>87<br>The cellular respiratory functions decline in aging human tissues and affected tissues of patients with mitochondrial diseases. This is accompanied by an increase of reactive oxygen species (ROS) production in mitochondria via the increased electron leak of the respiratory chain. As a result, an ever-increasing amount of ROS may escape from the defense systems and cause oxidative damage to biomolecules. To investigate the relationship between free radical scavenging enzymes and oxidative damage, a total of 76 normal subjects of different ages were

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26

Harr, Claudia Mareike. "Genetische Polymorphismen der mtDNA als Risikofaktoren für das SIDS (Sudden Infant Death Syndrome)." Doctoral thesis, 2013. http://hdl.handle.net/11858/00-1735-0000-0028-864E-0.

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Der plötzliche Kindstod (engl. Sudden Infant Death Syndrome-SIDS) ist die häufigste Todesursache bei Säuglingen innerhalb des ersten Lebensjahres. Die zugrundeliegenden pathophysiologischen Veränderungen sowie die genaue Todesursache sind bis dato ungeklärt. Viele Forschungsbereiche setzen sich intensiv mit der Klärung dieses „Phänomens“ auseinander. Ein Schwerpunkt liegt auf dem genetischen Gebiet und der Betrachtung verschiedener Polymorphismen. Ein Fokus wird hierbei auf die genetischen Polymorphismen der mitochondrialen DNA (mtDNA) gesetzt. In der vorliegenden Arbeit wurden daher drei Pol

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27

Gonçalves, Ana Cristina Pereira. "Oxidative stress versus epeginetics - Role in susceptibility, development, and progression of myeloid neoplasms." Doctoral thesis, 2016. http://hdl.handle.net/10316/29610.

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Tese de doutoramento em Ciências da Saúde, no ramo de Ciências Biomédicas, apresentada à Faculdade de Medicina da Universidade de Coimbra<br>Myeloid neoplasms (MN) are a group of heterogeneous diseases that includes myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), and acute myeloid leukemia (AML). These diseases can simultaneously harbor changes in reactive oxygen species (ROS) levels and in DNA methylation pattern. The oxidative stress (OS) results from the imbalance between ROS production, mainly in mitochondria, and their elimination by antioxidants. Moreover, MN recurre

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