Literature DB >> 11840193

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.

C Olsson1, E Johnsen, M Nilsson, E Wilander, A C Syvänen, M Lagerström-Fermér.   

Abstract

We have in a longitudinal study determined the proportion of the mitochondrial A3243G mutation in DNA obtained from cervical cell samples collected from three individuals affected with mitochondrial diabetes and hearing loss during a period of up to 18 years. Using the minisequencing method we were able to sensitively determine the proportion between mutant and normal mitochondrial DNA. Our results demonstrate a constant decrease in the levels of the pathogenic mutation in mitotic tissues of affected individuals with time.

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Year:  2001        PMID： 11840193     DOI： 10.1038/sj.ejhg.5200742

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  9 in total

1.  Mitochondrial dysfunction induces aberrant insulin signalling and glucose utilisation in murine C2C12 myotube cells.

Authors:  J H Lim; J I Lee; Y H Suh; W Kim; J H Song; M H Jung
Journal:  Diabetologia       Date:  2006-05-31       Impact factor: 10.122

2.  Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.

Authors:  Rinki Singh; Sian Ellard; Andrew Hattersley; Lorna W Harries
Journal:  J Mol Diagn       Date:  2006-05       Impact factor: 5.568

3.  Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Authors:  Vincent Procaccio; Nicolas Neckelmann; Veronique Paquis-Flucklinger; Sylvie Bannwarth; Richard Jimenez; Antonio Davila; Jason C Poole; Douglas C Wallace
Journal:  Mol Diagn Ther       Date:  2006       Impact factor: 4.074

4.  Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

Authors:  Harsha Karur Rajasimha; Patrick F Chinnery; David C Samuels
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

Review 5.  The rise and rise of mitochondrial DNA mutations.

Authors:  Conor Lawless; Laura Greaves; Amy K Reeve; Doug M Turnbull; Amy E Vincent
Journal:  Open Biol       Date:  2020-05-20       Impact factor: 6.411

6.  Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes.

Authors:  Enguang Rong; Hanbo Wang; Shujing Hao; Yuhong Fu; Yanyan Ma; Tianze Wang
Journal:  Biomed Res Int       Date:  2018-11-13       Impact factor: 3.246

7.  Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.

Authors:  Anna Lm Smith; Julia C Whitehall; Carla Bradshaw; David Gay; Fiona Robertson; Alasdair P Blain; Gavin Hudson; Angela Pyle; David Houghton; Matthew Hunt; James N Sampson; Craig Stamp; Grace Mallett; Shoba Amarnath; Jack Leslie; Fiona Oakley; Laura Wilson; Angela Baker; Oliver M Russell; Riem Johnson; Claire A Richardson; Bhavana Gupta; Iain McCallum; Stuart Ac McDonald; Seamus Kelly; John C Mathers; Rakesh Heer; Robert W Taylor; Neil D Perkins; Doug M Turnbull; Owen J Sansom; Laura C Greaves
Journal:  Nat Cancer       Date:  2020-09-21

8.  Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

Authors:  Tianhong Su; John P Grady; Sorena Afshar; Stuart Ac McDonald; Robert W Taylor; Doug M Turnbull; Laura C Greaves
Journal:  J Pathol       Date:  2018-11-05       Impact factor: 7.996

Review 9.  Roles of Mitochondrial DNA Mutations in Stem Cell Ageing.

Authors:  Tianhong Su; Doug M Turnbull; Laura C Greaves
Journal:  Genes (Basel)       Date:  2018-03-27       Impact factor: 4.096
  9 in total

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