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Literature DB >> 2296377

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

S Shanske¹, C T Moraes, A Lombes, A F Miranda, E Bonilla, P Lewis, M A Whelan, C A Ellsworth, S DiMauro.

Abstract

We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.

Entities: Disease Species

Mesh：

Substances：
DNA, Mitochondrial

Year: 1990 PMID： 2296377 DOI： 10.1212/wnl.40.1.24

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

Keyword Cloud
Cited

26 in total

1. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Authors: M Yoneda; A Chomyn; A Martinuzzi; O Hurko; G Attardi
Journal: Proc Natl Acad Sci U S A Date: 1992-12-01 Impact factor: 11.205

2. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations.

Authors: Y Kobayashi; K Ichihashi; S Ohta; K Nihei; Y Kagawa; M Yanagisawa; M Y Momoi
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

3. 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 4. Deletions of the mitochondrial genome.

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

5. 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

10. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

Authors: P Lertrit; A S Noer; M J Jean-Francois; R Kapsa; X Dennett; D Thyagarajan; K Lethlean; E Byrne; S Marzuki
Journal: Am J Hum Genet Date: 1992-09 Impact factor: 11.025

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

1. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

2. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations.

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

Review 4. Deletions of the mitochondrial genome.

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

Review 6. Mitochondrial DNA mutations and pathogenesis.

7. Kearns-Sayre syndrome presenting as complete heart block.

8. Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

9. Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.

10. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.