Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.

PubWeight™: 0.94‹?›

🔗 View Article (PMC 2887930)

Published in Exp Gerontol on January 22, 2010

Authors

Laura C Greaves1, Martin J Barron, Stefan Plusa, Thomas B Kirkwood, John C Mathers, Robert W Taylor, Doug M Turnbull

Author Affiliations

1: Mitochondrial Research Group, Institute for Ageing and Health, Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, UK.

Articles citing this

Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet (2012) 2.39

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations. PLoS Genet (2012) 1.01

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing. PLoS Genet (2014) 0.99

Mitochondrial DNA polymerase editing mutation, PolgD257A, disturbs stem-progenitor cell cycling in the small intestine and restricts excess fat absorption. Am J Physiol Gastrointest Liver Physiol (2012) 0.88

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. J Neurosci Methods (2014) 0.87

Aging of the mammalian gastrointestinal tract: a complex organ system. Age (Dordr) (2013) 0.86

Control of mitochondrial integrity in ageing and disease. Philos Trans R Soc Lond B Biol Sci (2014) 0.83

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clin Sci (Lond) (2015) 0.78

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans. Mech Ageing Dev (2014) 0.76

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion (2015) 0.75

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease. Cell Rep (2016) 0.75

Articles cited by this

Sequence and organization of the human mitochondrial genome. Nature (1981) 57.39

The Protein Information Resource: an integrated public resource of functional annotation of proteins. Nucleic Acids Res (2002) 12.20

Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature (2004) 11.59

Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science (2005) 9.57

Mitochondrial DNA mutations in human disease. Nat Rev Genet (2005) 8.51

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J (2000) 4.81

Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84

Mitochondrial point mutations do not limit the natural lifespan of mice. Nat Genet (2007) 3.53

Respiratory active mitochondrial supercomplexes. Mol Cell (2008) 3.35

MITOMAP: a human mitochondrial genome database--2004 update. Nucleic Acids Res (2005) 3.35

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res (2006) 3.23

Mitochondrial role in cell aging. Exp Gerontol (1980) 2.82

Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell (2004) 2.61

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proc Natl Acad Sci U S A (2006) 2.42

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology (2007) 2.39

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am J Hum Genet (2001) 2.31

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res (2001) 2.17

Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle. Cell (1977) 2.09

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann Neurol (1998) 2.08

An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann Neurol (2000) 1.95

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J (1990) 1.89

Mitochondrial dysfunction as a cause of ageing. J Intern Med (2008) 1.69

Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons. Hum Mol Genet (2008) 1.62

Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues. Proc Natl Acad Sci U S A (2002) 1.54

Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study. Am J Pathol (1989) 1.54

Hydrogen ion concentration changes in mitochondrial membranes. J Biol Chem (1966) 1.52

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. J Neurol Sci (1990) 1.46

Disorders of mitochondrial protein synthesis. Hum Mol Genet (2003) 1.45

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age. Neurobiol Aging (2001) 1.33

Locating the stem cell niche and tracing hepatocyte lineages in human liver. Hepatology (2009) 1.25

A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. Proc Natl Acad Sci U S A (2009) 1.19

A functionally dominant mitochondrial DNA mutation. Hum Mol Genet (2008) 1.17

Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing--a cytochemical-immunohistochemical study. Mutat Res (1992) 1.16

The ageing mitochondrial genome. Nucleic Acids Res (2007) 1.11

External contamination in single cell mtDNA analysis. PLoS One (2007) 1.04

Functional and molecular mitochondrial abnormalities associated with a C --> T transition at position 3256 of the human mitochondrial genome. The effects of a pathogenic mitochondrial tRNA point mutation in organelle translation and RNA processing. J Biol Chem (1996) 1.03

Mitochondrial DNA and disease. Lancet (1999) 1.01

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol (2000) 0.98

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve (2003) 0.97

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. J Med Genet (2006) 0.89

An immunocytochemical approach to detection of mitochondrial disorders. J Histochem Cytochem (2002) 0.83

Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol (2001) 0.79

Articles by these authors

Mitochondrial DNA mutations in human disease. Nat Rev Genet (2005) 8.51

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet (2006) 6.52

Prevalence of mitochondrial DNA disease in adults. Ann Neurol (2008) 4.72

Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature (2010) 3.73

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain (2007) 3.14

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res (2002) 2.88

What causes mitochondrial DNA deletions in human cells? Nat Genet (2008) 2.70

Tracking of obesity-related behaviours from childhood to adulthood: A systematic review. Maturitas (2011) 2.59

Biochemical assays of respiratory chain complex activity. Methods Cell Biol (2007) 2.56

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proc Natl Acad Sci U S A (2006) 2.42

The epidemiology of mitochondrial disorders--past, present and future. Biochim Biophys Acta (2004) 2.41

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology (2007) 2.39

Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet (2012) 2.39

Multigenerational epigenetic adaptation of the hepatic wound-healing response. Nat Med (2012) 2.28

Assessing the survival of transgenic plant DNA in the human gastrointestinal tract. Nat Biotechnol (2004) 2.26

Mitochondrial DNA mutations and human disease. Biochim Biophys Acta (2009) 2.24

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Hum Pathol (2013) 2.18

Age-related meiotic segregation errors in mammalian oocytes are preceded by depletion of cohesin and Sgo2. Curr Biol (2010) 2.17

A neurological perspective on mitochondrial disease. Lancet Neurol (2010) 2.16

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet (2006) 1.99

Biomarkers of the intake of dietary polyphenols: strengths, limitations and application in nutrition research. Br J Nutr (2007) 1.95

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84

Mitochondrial DNA and disease. J Pathol (2011) 1.81

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet (2004) 1.76

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol (2015) 1.75

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest (2004) 1.71

Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain (2008) 1.67

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) (2011) 1.64

Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis. Brain (2011) 1.63

The diagnosis of mitochondrial muscle disease. Neuromuscul Disord (2004) 1.61

Mitochondrial donation--how many women could benefit? N Engl J Med (2015) 1.61

Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann Neurol (2010) 1.60

Genetic polymorphisms in the human selenoprotein P gene determine the response of selenoprotein markers to selenium supplementation in a gender-specific manner (the SELGEN study). FASEB J (2007) 1.58

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem (2007) 1.56

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol (2004) 1.51

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain (2014) 1.49

Degradation of transgenic DNA from genetically modified soya and maize in human intestinal simulations. Br J Nutr (2002) 1.48

Proteomic analysis reveals field-wide changes in protein expression in the morphologically normal mucosa of patients with colorectal neoplasia. Cancer Res (2006) 1.48

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet (2002) 1.47

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. J Neurol Neurosurg Psychiatry (2012) 1.46

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies. J Am Coll Cardiol (2007) 1.43

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain (2002) 1.43

Mitochondrial tRNA mutations and disease. Wiley Interdiscip Rev RNA (2010) 1.40

Longitudinal change in food habits between adolescence (11-12 years) and adulthood (32-33 years): the ASH30 Study. J Public Health (Oxf) (2006) 1.39

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology (2010) 1.39

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet (2013) 1.37

Assessment of a large panel of candidate biomarkers of ageing in the Newcastle 85+ study. Mech Ageing Dev (2011) 1.36

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain (2006) 1.34

Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. J Med Genet (2006) 1.34

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat (2011) 1.33

Are behavioral interventions effective in increasing physical activity at 12 to 36 months in adults aged 55 to 70 years? A systematic review and meta-analysis. BMC Med (2013) 1.32

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches. Hum Mutat (2009) 1.32

Quantification of mitochondrial DNA mutation load. Aging Cell (2009) 1.29

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain (2010) 1.27

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet (2013) 1.27

Splice variants of the human zinc transporter ZnT5 (SLC30A5) are differentially localized and regulated by zinc through transcription and mRNA stability. J Biol Chem (2007) 1.26

Functional effects of a common single-nucleotide polymorphism (GPX4c718t) in the glutathione peroxidase 4 gene: interaction with sex. Am J Clin Nutr (2008) 1.26

Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease. Ann Rheum Dis (2010) 1.25

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet (2002) 1.25

Locating the stem cell niche and tracing hepatocyte lineages in human liver. Hepatology (2009) 1.25

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod (2006) 1.25

Randomised controlled trial evaluating lifestyle interventions in people with impaired glucose tolerance. Diabetes Res Clin Pract (2005) 1.24

Maternally inherited mitochondrial DNA disease in consanguineous families. Eur J Hum Genet (2011) 1.23

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. J Neurol Neurosurg Psychiatry (2013) 1.23

Do we know enough? A scientific and ethical analysis of the basis for genetic-based personalized nutrition. Genes Nutr (2013) 1.23

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet (2004) 1.22

A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane. J Biol Chem (2002) 1.21

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol (2011) 1.21

Global LINE-1 DNA methylation is associated with blood glycaemic and lipid profiles. Int J Epidemiol (2012) 1.20

Allosteric antagonism of insect odorant receptor ion channels. PLoS One (2012) 1.20

Inorganic nitrate and beetroot juice supplementation reduces blood pressure in adults: a systematic review and meta-analysis. J Nutr (2013) 1.19

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry (2011) 1.19

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord (2012) 1.18

Challenges of molecular nutrition research 6: the nutritional phenotype database to store, share and evaluate nutritional systems biology studies. Genes Nutr (2010) 1.18

Towards measurement of the Healthy Ageing Phenotype in lifestyle-based intervention studies. Maturitas (2013) 1.17

Design and baseline characteristics of the Food4Me study: a web-based randomised controlled trial of personalised nutrition in seven European countries. Genes Nutr (2014) 1.17

Importance of weight loss maintenance and risk prediction in the prevention of type 2 diabetes: analysis of European Diabetes Prevention Study RCT. PLoS One (2013) 1.16

Prevention of type 2 diabetes in adults with impaired glucose tolerance: the European Diabetes Prevention RCT in Newcastle upon Tyne, UK. BMC Public Health (2009) 1.16

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J (2005) 1.15

Relative abundance of selenoprotein P isoforms in human plasma depends on genotype, se intake, and cancer status. Antioxid Redox Signal (2009) 1.15

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet (2011) 1.14

Online dietary intake estimation: the Food4Me food frequency questionnaire. J Med Internet Res (2014) 1.14

Comparison of methods for quantification of global DNA methylation in human cells and tissues. PLoS One (2013) 1.14

Effect of sex and genotype on cardiovascular biomarker response to fish oils: the FINGEN Study. Am J Clin Nutr (2008) 1.13

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol (2007) 1.13

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat (2013) 1.12