نتایج جستجو برای: polg gene

تعداد نتایج: 1141492  

2013
Jeffrey D. Stumpf William C. Copeland

The importance of mitochondrial DNA (mtDNA) deletions in the progeroid phenotype of exonuclease-deficient DNA polymerase g mice has been intensely debated. We show that disruption of Mip1 exonuclease activity increases mtDNA deletions 160fold, whereas disease-associated polymerase variants were mostly unaffected, suggesting that exonuclease activity is vital to avoid deletions during mtDNA repl...

Journal: :Archives of neurology 2008
Silvio Ferraris Susanna Clark Emanuela Garelli Guido Davidzon Steven A Moore Randy H Kardon Rachelle J Bienstock Matthew J Longley Michelangelo Mancuso Purificación Gutiérrez Ríos Michio Hirano William C Copeland Salvatore DiMauro

OBJECTIVE To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene. DESIGN Clinical examination and morphological, biochemical, and molecular analyses. SETTING Tertiary care university hospitals and molecular genetics ...

Journal: :Genetics 2005
João Pedro de Magalhães José A S Cabral Domingos Magalhães

Genetic interventions that accelerate or retard aging in mice are crucial in advancing our knowledge over mammalian aging. Yet determining if a given intervention affects the aging process is not straightforward since, for instance, many disease-causing mutations may decrease life span without affecting aging. In this work, we employed the Gompertz model to determine whether several published i...

Journal: :Genetika 2022

The aim of the study was to analyze genetic basis a various range neurodegenerative disorders manifesting by movement (MD) using next generation sequencing (NGS) clinical exome panel. included total number 42 cases, 36 unrelated and 3 sibling pairs patients diagnosed with disorders, all negative after targeted testing available at Neurology clinic, UCCS, Belgrade, Serbia. In selection responden...

2015
Bhupendra Singh Xiurong Li Kjerstin M. Owens Ayyasamy Vanniarajan Ping Liang Keshav K. Singh Janine Santos

To date, mitochondrial DNA polymerase γ (POLG) is the only polymerase known to be present in mammalian mitochondria. A dogma in the mitochondria field is that there is no other polymerase present in the mitochondria of mammalian cells. Here we demonstrate localization of REV3 DNA polymerase in the mammalian mitochondria. We demonstrate localization of REV3 in the mitochondria of mammalian tissu...

2017
Ellen Winckelmans Tim S Nawrot Maria Tsamou Elly Den Hond Willy Baeyens Jos Kleinjans Wouter Lefebvre Nicolas Van Larebeke Martien Peusens Michelle Plusquin Hans Reynders Greet Schoeters Charlotte Vanpoucke Theo M de Kok Karen Vrijens

BACKGROUND Due to their lack of repair capacity mitochondria are critical targets for environmental toxicants. We studied genes and pathways reflecting mitochondrial responses to short- and medium-term PM10 exposure. METHODS Whole genome gene expression was measured in peripheral blood of 98 adults (49% women). We performed linear regression analyses stratified by sex and adjusted for individ...

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