Abstract |
Genetic, biochemical and morphological investigations were conducted on skeletal muscle mitochondria from 6 cases of ocular myopathy: 4 cases with Kearns-Sayre syndrome (KSS) and 2 with chronic progressive external ophthalmoplegia. All of these 6 cases showed mitochondrial DNA ( mtDNA) deletions in addition to normal sized DNA in the quadriceps muscle. The deletions ranging from 3 to 8 kbp were also mapped between nucleotides 5500 and 16000 by Southern blot. The deleted genes encoded for some subunits of complexes I, IV, V and 5-10 tRNAS. The boundaries of the deletions have been sequenced in three patients. Five patients had mitochondrial respiratory chain deficiency in complex I as shown by the low oxygen consumption in isolated mitochondria using three NAD(+)-linked substrates. Mitochondria with an abnormal ultrastructure were also observed in 2 cases. A good relationship between the cytochrome c oxidase deficiency and the amount of deleted mtDNA was shown in our present investigations.
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Authors | F Degoul, I Nelson, P Lestienne, D Francois, N Romero, D Duboc, B Eymard, M Fardeau, G Ponsot, M Paturneau-Jouas |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 101
Issue 2
Pg. 168-77
(Feb 1991)
ISSN: 0022-510X [Print] Netherlands |
PMID | 1851820
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- Multienzyme Complexes
- RNA, Transfer
- Electron Transport Complex IV
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Topics |
- Adult
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- Cytochrome-c Oxidase Deficiency
- DNA Mutational Analysis
- DNA, Mitochondrial
(genetics)
- Electron Transport
(genetics)
- Electron Transport Complex IV
(genetics)
- Female
- Humans
- Kearns-Sayre Syndrome
(genetics, pathology)
- Male
- Middle Aged
- Mitochondria, Muscle
(metabolism, ultrastructure)
- Molecular Sequence Data
- Multienzyme Complexes
(deficiency, genetics)
- Muscles
(pathology)
- Ophthalmoplegia
(genetics, pathology)
- Oxygen Consumption
- Polymerase Chain Reaction
- RNA, Transfer
(genetics)
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