| Cytoplasmic body and mitochondrial DNA deletion. | |
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MedLine Citation:
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PMID: 1964959 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A patient with chronic progressive external ophthalmoplegia (CPEO) who had abundant cytoplasmic bodies in muscle fibers and a deletion of mitochondrial DNA is reported. The patient was a 26-year-old male suffering from ophthalmoplegia from age 21. He had a marfanoid skeletal abnormality and perceptive hearing loss, but had neither retinopathy, ataxia, nor dementia. In the mitochondria isolated from the biopsied skeletal muscle, NADH-ubiquinone oxidoreductase activity was slightly decreased, succinate-cytochrome c reductase activity was slightly increased, and cytochrome c oxidase activity remained normal. Southern blot analysis of the muscle DNA identified heteroplasmy composed of a normal-sized mitochondrial DNA and a mutant mitochondrial DNA with a 4.2-kilobase deletion. The PCR plus S1 analysis showed that the deletion extended from nucleotide position 7860 +/- 60 to 12,090 +/- 70. The histological studies of the biopsied muscle revealed ragged-red fibers and cytochrome c oxidase-negative fibers in 15.7% and 18.6% of the muscle fibers, respectively. Other conspicuous histological change was abundant cytoplasmic bodies surrounded by clusters of abnormal mitochondria. The cytoplasmic bodies were found preferentially in type 1 fibers, and exclusively in cytochrome c oxidase-negative fibers and in ragged-red fibers. Focal existence of cytoplasmic bodies in muscle fibers with abnormal mitochondria suggests that segregated distribution of the abnormal mitochondria with deleted mitochondrial DNA is involved in the pathogenesis of cytoplasmic bodies. |
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Authors:
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K Sahashi; K Ohno; M Tanaka; T Ibi; T Yamamoto; M Tashiro; W Sato; A Takahashi; T Ozawa |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 99 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1990 Nov |
Date Detail:
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Created Date: 1991-05-21 Completed Date: 1991-05-21 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 291-300 Citation Subset: IM |
Affiliation:
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Department of Medicine, Aichi Medical University, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Chromosome Deletion DNA, Mitochondrial / genetics* Humans Inclusion Bodies / ultrastructure* Male Mitochondria, Muscle / enzymology, ultrastructure Molecular Sequence Data Muscles / pathology* Muscular Atrophy / genetics Ophthalmoplegia / genetics*, pathology Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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