نتایج جستجو برای: polg gene

تعداد نتایج: 1141492  

2017
Willem MA Verhoeven Jos IM egger Berry PH Kremer Boudewijn JHB de Pont Carlo LM Marcelis

2015
David N. Hauser Christopher T. Primiani Rebekah G. Langston Ravindran Kumaran Mark R. Cookson

Mutations in the DJ-1 gene cause autosomal recessive parkinsonism in humans. Several mouse models of DJ-1 deficiency have been developed, but they do not have dopaminergic neuron cell death in the substantia nigra pars compacta (SNpc). Mitochondrial DNA (mtDNA) damage occurs frequently in the aged human SNpc but not in the mouse SNpc. We hypothesized that the reason DJ-1-deficient mice do not h...

2011
André Schaller Dagmar Hahn Christopher B Jackson Ilse Kern Christophe Chardot Dominique C Belli Sabina Gallati Jean-Marc Nuoffer

BACKGROUND DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective oxidative phosphorylation (OXPHOS). Many mutations map to the polymerase and exonuclease domains of...

Journal: :Bulletin of Russian State Medical University 2022

Mitochondrial dysfunctions, which underlie many systemic diseases in animals and humans, may arise from accumulation of mutations the mitochondrial genome. PolG-alpha enzyme encoded by Polg gene is crucial for replication repair The aim this study was to assess possible role dysfunctions using vitro vivo animal models. experiments involved transgenic mice with inducible expression mutant varian...

2012
Sami Azrak Vanniarajan Ayyasamy Gary Zirpoli Christine Ambrosone Elisa V. Bandera Dana H. Bovbjerg Lina Jandorf Gregory Ciupak Warren Davis Karen S. Pawlish Ping Liang Keshav Singh

The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mitochondrial DNA replication in humans, contains a polyglutamine tract encoded by CAG repeats of varying length. The length of the CAG repeat has been associated with the risk of testicular cancer, and other genomic variants that impact mitochondrial function have been linked to breast...

2017
Lihua Wang Xiwen Chen Zhuanyun Du Gefei Li Mayun Chen Xi Chen Guang Liang Tongke Chen

BACKGROUND Curcumin, as a pro-apoptotic agent, is extensively studied to inhibit tumor cell growth of various tumor types. Previous work has demonstrated that curcumin inhibits cancer cell growth by targeting multiple signaling transduction and cellular processes. However, the role of curcumin in regulating cellular bioenergetic processes remains largely unknown. METHODS Western blotting and ...

2010
Joanna D. Stewart Rita Horvath Enrico Baruffini Iliana Ferrero Stefanie Bulst Paul B. Watkins Robert J. Fontana Christopher P. Day Patrick F. Chinnery

Sodium valproate (VPA) is widely used throughout the world to treat epilepsy, migraine, chronic headache, bipolar disorder, and as adjuvant chemotherapy. VPA toxicity is an uncommon but potentially fatal cause of idiosyncratic liver injury. Rare mutations in POLG, which codes for the mitochondrial DNA polymerase c (polc), cause Alpers-Huttenlocher syndrome (AHS). AHS is a neurometabolic disorde...

Journal: :Acta neurologica Belgica 2006
Gert Van Goethem

Mitochondrial DNA (mtDNA) is maternally inherited. After birth, secondary mtDNA defects can arise. MtDNA depletion is a reduction in the amount of mtDNA in particular tissues. Multiple deletions of mtDNA accumulate as somatic mutations in mainly postmitotic tissues. These disorders of mtDNA maintenance frequently show Mendelian inheritance. Positional cloning has identified several genes involv...

Objective(s) Varicocele is associated with impaired testicular function and male infertility, but the molecular mechanisms by which fertility is affected have not been satisfactorily explained. The aim of our study was to investigate whether or not the polymerase gamma (POLG) polymorphism is associated with Iranian varicocele patients.    Materials and Methods We determined the POLG CAG repe...

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