Literature DB >> 1973036

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.

B Obermaier-Kusser1, J Müller-Höcker, I Nelson, P Lestienne, C Enter, T Riedele, K D Gerbitz.   

Abstract

An apparently identical deletion of 4.977 bp in length (position 8,483-13,459) was detectable in the mitochondrial DNA from skeletal muscle, heart muscle, kidney, and liver of a patient with Kearns-Sayre syndrome. The proportion of deleted genome varied from 60% for the skeletal muscle to 15% for heart muscle and kidney, and was below 5% in the liver. The mtDNA heteroplasmy of the liver was only detectable after amplification by PCR. In skeletal and heart muscle histochemical and immunocytochemical findings concerning cytochrome c oxidase were in good correlation with the proportion of deleted mitochondrial DNA.

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Year:  1990        PMID： 1973036     DOI： 10.1016/0006-291x(90)91994-4

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


  10 in total

1.  Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

Authors:  A E Harding; I J Holt; M G Sweeney; M Brockington; M B Davis
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

Review 2.  Deletions of the mitochondrial genome.

Authors:  A E Harding; S R Hammans
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 3.  Does the mitochondrial DNA play a role in the pathogenesis of diabetes?

Authors:  K D Gerbitz
Journal:  Diabetologia       Date:  1992-12       Impact factor: 10.122

4.  Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly.

Authors:  J Müller-Höcker; P Seibel; K Schneiderbanger; B Kadenbach
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

5.  A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

Authors:  C Enter; J Müller-Höcker; S Zierz; G Kurlemann; D Pongratz; C Förster; B Obermaier-Kusser; K D Gerbitz
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

6.  Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences.

Authors:  A Baumer; C Zhang; A W Linnane; P Nagley
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

7.  Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

Authors:  F Degoul; I Nelson; S Amselem; N Romero; B Obermaier-Kusser; G Ponsot; C Marsac; P Lestienne
Journal:  Nucleic Acids Res       Date:  1991-02-11       Impact factor: 16.971

8.  Evidence for a life span-prolonging effect of a linear plasmid in a longevity mutant of Podospora anserina.

Authors:  J Hermanns; A Asseburg; H D Osiewacz
Journal:  Mol Gen Genet       Date:  1994-05-10

9.  Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.

Authors:  P Lertrit; A S Noer; E Byrne; S Marzuki
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

10.  A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.

Authors:  G A Cortopassi; D Shibata; N W Soong; N Arnheim
Journal:  Proc Natl Acad Sci U S A       Date:  1992-08-15       Impact factor: 11.205
  10 in total

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