Literature DB >> 18179904

Nature of mitochondrial DNA deletions in substantia nigra neurons.

Amy K Reeve1, Kim J Krishnan, Joanna L Elson, Christopher M Morris, Andreas Bender, Robert N Lightowlers, Douglass M Turnbull.   

Abstract

Mitochondrial DNA (mtDNA) deletions have been investigated in a number of neurodegenerative diseases. This study aimed to investigate the characteristics of mtDNA deletions found in single substantia nigra neurons from three patient groups: controls, Parkinson disease patients, and a patient with Parkinsonism due to multiple mtDNA deletions. We have identified 89 deletions from these neurons and examined the breakpoint characteristics of them. There was no difference in the types of mtDNA deletions detected in these neurons. These results suggest that the mechanism leading to the formation of these deletions in these three distinct groups could be the same.

Entities:  

Mesh:

Substances:

Year:  2008        PMID: 18179904      PMCID: PMC2253975          DOI: 10.1016/j.ajhg.2007.09.018

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  14 in total

1.  Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Authors:  Sjoerd Wanrooij; Petri Luoma; Gert van Goethem; Christine van Broeckhoven; Anu Suomalainen; Johannes N Spelbrink
Journal:  Nucleic Acids Res       Date:  2004-06-04       Impact factor: 16.971

Review 2.  Two direct repeats cause most human mtDNA deletions.

Authors:  David C Samuels; Eric A Schon; Patrick F Chinnery
Journal:  Trends Genet       Date:  2004-09       Impact factor: 11.639

3.  An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Authors:  M Zeviani; S Servidei; C Gellera; E Bertini; S DiMauro; S DiDonato
Journal:  Nature       Date:  1989-05-25       Impact factor: 49.962

4.  Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD.

Authors:  D A Cottrell; E L Blakely; M A Johnson; P G Ince; D M Turnbull
Journal:  Neurology       Date:  2001-07-24       Impact factor: 9.910

Review 5.  Replication of animal mitochondrial DNA.

Authors:  D A Clayton
Journal:  Cell       Date:  1982-04       Impact factor: 41.582

6.  Cytochrome c oxidase defects of the human substantia nigra in normal aging.

Authors:  K Itoh; S Weis; P Mehraein; J Müller-Höcker
Journal:  Neurobiol Aging       Date:  1996 Nov-Dec       Impact factor: 4.673

7.  Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans.

Authors:  Sarika Srivastava; Carlos T Moraes
Journal:  Hum Mol Genet       Date:  2005-02-09       Impact factor: 6.150

8.  Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA.

Authors:  I J Holt; H E Lorimer; H T Jacobs
Journal:  Cell       Date:  2000-03-03       Impact factor: 41.582

9.  Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand.

Authors:  Takehiro Yasukawa; Aurelio Reyes; Tricia J Cluett; Ming-Yao Yang; Mark Bowmaker; Howard T Jacobs; Ian J Holt
Journal:  EMBO J       Date:  2006-10-26       Impact factor: 11.598

10.  Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy.

Authors:  M Sciacco; E Bonilla; E A Schon; S DiMauro; C T Moraes
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

View more
  54 in total

1.  Striatal dysfunctions associated with mitochondrial DNA damage in dopaminergic neurons in a mouse model of Parkinson's disease.

Authors:  Alicia M Pickrell; Milena Pinto; Aline Hida; Carlos T Moraes
Journal:  J Neurosci       Date:  2011-11-30       Impact factor: 6.167

Review 2.  Mechanisms of mitophagy.

Authors:  Richard J Youle; Derek P Narendra
Journal:  Nat Rev Mol Cell Biol       Date:  2011-01       Impact factor: 94.444

Review 3.  The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects.

Authors:  Amica C Müller-Nedebock; Rebecca R Brennan; Marianne Venter; Ilse S Pienaar; Francois H van der Westhuizen; Joanna L Elson; Owen A Ross; Soraya Bardien
Journal:  Neurochem Int       Date:  2019-06-21       Impact factor: 3.921

4.  Mitochondrial gene therapy augments mitochondrial physiology in a Parkinson's disease cell model.

Authors:  Paula M Keeney; Caitlin K Quigley; Lisa D Dunham; Christina M Papageorge; Shilpa Iyer; Ravindar R Thomas; Kathleen M Schwarz; Patricia A Trimmer; Shaharyar M Khan; Francisco R Portell; Kristen E Bergquist; James P Bennett
Journal:  Hum Gene Ther       Date:  2009-08       Impact factor: 5.695

5.  Systemic isradipine treatment diminishes calcium-dependent mitochondrial oxidant stress.

Authors:  Jaime N Guzman; Ema Ilijic; Ben Yang; Javier Sanchez-Padilla; David Wokosin; Dan Galtieri; Jyothisri Kondapalli; Paul T Schumacker; D James Surmeier
Journal:  J Clin Invest       Date:  2018-04-30       Impact factor: 14.808

6.  Inherited and somatic mitochondrial DNA mutations in Guam amyotrophic lateral sclerosis and parkinsonism-dementia.

Authors:  Dana M Reiff; Rita Spathis; Chim W Chan; Miguel G Vilar; Krithivasan Sankaranarayanan; Daniel Lynch; Emily Ehrlich; Samantha Kerath; Risana Chowdhury; Leah Robinowitz; J Koji Lum; Ralph M Garruto
Journal:  Neurol Sci       Date:  2011-08-06       Impact factor: 3.307

Review 7.  DNA strand breaks, neurodegeneration and aging in the brain.

Authors:  Sachin Katyal; Peter J McKinnon
Journal:  Mech Ageing Dev       Date:  2008-03-25       Impact factor: 5.432

8.  OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.

Authors:  Patrick Yu-Wai-Man; Kamil S Sitarz; David C Samuels; Philip G Griffiths; Amy K Reeve; Laurence A Bindoff; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2010-05-18       Impact factor: 6.150

9.  Intra- and inter-molecular recombination of mitochondrial DNA after in vivo induction of multiple double-strand breaks.

Authors:  Sandra R Bacman; Sion L Williams; Carlos T Moraes
Journal:  Nucleic Acids Res       Date:  2009-05-12       Impact factor: 16.971

10.  The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons.

Authors:  Amy K Reeve; Kim J Krishnan; Geoffrey Taylor; Joanna L Elson; Andreas Bender; Robert W Taylor; Christopher M Morris; Doug M Turnbull
Journal:  Aging Cell       Date:  2009-05-31       Impact factor: 9.304

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.