Literature DB >> 2541710

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.

C T Moraes1, E A Schon, S DiMauro, A F Miranda.   

Abstract

We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of less than 1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.

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Year:  1989        PMID： 2541710     DOI： 10.1016/0006-291x(89)92499-6

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


  28 in total

1.  Duplications of mitochondrial DNA: implications for pathogenesis.

Authors:  J Poulton
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

Authors:  J Hayashi; S Ohta; A Kikuchi; M Takemitsu; Y Goto; I Nonaka
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

Review 3.  Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.

Authors:  Nadee Nissanka; Carlos T Moraes
Journal:  EMBO Rep       Date:  2020-02-19       Impact factor: 8.807

4.  Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study.

Authors:  I Nonaka; Y Koga; A Kikuchi; Y Goto
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

5.  Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression.

Authors:  Y Tang; E A Schon; E Wilichowski; M E Vazquez-Memije; E Davidson; M P King
Journal:  Mol Biol Cell       Date:  2000-04       Impact factor: 4.138

Review 6.  A possible role for mitochondrial dysfunction in migraine.

Authors:  S Stuart; L R Griffiths
Journal:  Mol Genet Genomics       Date:  2012-10-07       Impact factor: 3.291

7.  Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis.

Authors:  H Nakase; C T Moraes; R Rizzuto; A Lombes; S DiMauro; E A Schon
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

8.  Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Authors:  S Mita; B Schmidt; E A Schon; S DiMauro; E Bonilla
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

9.  In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.

Authors:  A Chomyn; G Meola; N Bresolin; S T Lai; G Scarlato; G Attardi
Journal:  Mol Cell Biol       Date:  1991-04       Impact factor: 4.272

10.  Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Authors:  L Boulet; G Karpati; E A Shoubridge
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025
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