A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
We report a new mutation, a G to A transition at nucleotide position 4298 within the mitochondrial tRNA(Ile) gene in a patient with chronic progressive external ophthalmoplegia and multiple sclerosis. The mutation, which alters an evolutionary conserved nucleotide within the anticodon stem, was hete...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1998-02, Vol.243 (1), p.47-51 |
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| container_title | Biochemical and biophysical research communications |
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| creator | Taylor, R W Chinnery, P F Bates, M J Jackson, M J Johnson, M A Andrews, R M Turnbull, D M |
| description | We report a new mutation, a G to A transition at nucleotide position 4298 within the mitochondrial tRNA(Ile) gene in a patient with chronic progressive external ophthalmoplegia and multiple sclerosis. The mutation, which alters an evolutionary conserved nucleotide within the anticodon stem, was heteroplasmic in skeletal muscle but was not present in the patient's blood. Single fibre PCR analysis revealed significantly higher levels of the G4298A mutation in cytochrome c oxidase (COX) negative fibres than in COX-positive fibres. This mutation represents the seventh pathogenic nucleotide substitution to be found in this gene and as such confirms the tRNA(Ile) gene as a susceptible "hot spot" for mitochondrial DNA point mutations. Of particular interest is that this patient has the clinical features of both multiple sclerosis and a mitochondrial DNA disorder. |
| doi_str_mv | 10.1006/bbrc.1997.8055 |
| format | Article |
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The mutation, which alters an evolutionary conserved nucleotide within the anticodon stem, was heteroplasmic in skeletal muscle but was not present in the patient's blood. Single fibre PCR analysis revealed significantly higher levels of the G4298A mutation in cytochrome c oxidase (COX) negative fibres than in COX-positive fibres. This mutation represents the seventh pathogenic nucleotide substitution to be found in this gene and as such confirms the tRNA(Ile) gene as a susceptible "hot spot" for mitochondrial DNA point mutations. Of particular interest is that this patient has the clinical features of both multiple sclerosis and a mitochondrial DNA disorder.</description><identifier>ISSN: 0006-291X</identifier><identifier>DOI: 10.1006/bbrc.1997.8055</identifier><identifier>PMID: 9473477</identifier><language>eng</language><publisher>United States</publisher><subject>Animals ; Base Sequence ; DNA, Mitochondrial - chemistry ; DNA, Mitochondrial - genetics ; Electron Transport Complex IV - metabolism ; Female ; Humans ; Middle Aged ; Mitochondrial Myopathies - complications ; Mitochondrial Myopathies - genetics ; Mitochondrial Myopathies - metabolism ; Molecular Sequence Data ; Multiple Sclerosis - complications ; Multiple Sclerosis - genetics ; Multiple Sclerosis - metabolism ; Muscle Fibers, Skeletal - metabolism ; Muscle, Skeletal - metabolism ; Nucleic Acid Conformation ; Ophthalmoplegia, Chronic Progressive External - complications ; Ophthalmoplegia, Chronic Progressive External - genetics ; Ophthalmoplegia, Chronic Progressive External - metabolism ; Point Mutation ; RNA, Transfer, Ile - genetics ; Sequence Homology, Nucleic Acid ; Species Specificity</subject><ispartof>Biochemical and biophysical research communications, 1998-02, Vol.243 (1), p.47-51</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9473477$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Taylor, R W</creatorcontrib><creatorcontrib>Chinnery, P F</creatorcontrib><creatorcontrib>Bates, M J</creatorcontrib><creatorcontrib>Jackson, M J</creatorcontrib><creatorcontrib>Johnson, M A</creatorcontrib><creatorcontrib>Andrews, R M</creatorcontrib><creatorcontrib>Turnbull, D M</creatorcontrib><title>A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis</title><title>Biochemical and biophysical research communications</title><addtitle>Biochem Biophys Res Commun</addtitle><description>We report a new mutation, a G to A transition at nucleotide position 4298 within the mitochondrial tRNA(Ile) gene in a patient with chronic progressive external ophthalmoplegia and multiple sclerosis. 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The mutation, which alters an evolutionary conserved nucleotide within the anticodon stem, was heteroplasmic in skeletal muscle but was not present in the patient's blood. Single fibre PCR analysis revealed significantly higher levels of the G4298A mutation in cytochrome c oxidase (COX) negative fibres than in COX-positive fibres. This mutation represents the seventh pathogenic nucleotide substitution to be found in this gene and as such confirms the tRNA(Ile) gene as a susceptible "hot spot" for mitochondrial DNA point mutations. Of particular interest is that this patient has the clinical features of both multiple sclerosis and a mitochondrial DNA disorder.</abstract><cop>United States</cop><pmid>9473477</pmid><doi>10.1006/bbrc.1997.8055</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Animals Base Sequence DNA, Mitochondrial - chemistry DNA, Mitochondrial - genetics Electron Transport Complex IV - metabolism Female Humans Middle Aged Mitochondrial Myopathies - complications Mitochondrial Myopathies - genetics Mitochondrial Myopathies - metabolism Molecular Sequence Data Multiple Sclerosis - complications Multiple Sclerosis - genetics Multiple Sclerosis - metabolism Muscle Fibers, Skeletal - metabolism Muscle, Skeletal - metabolism Nucleic Acid Conformation Ophthalmoplegia, Chronic Progressive External - complications Ophthalmoplegia, Chronic Progressive External - genetics Ophthalmoplegia, Chronic Progressive External - metabolism Point Mutation RNA, Transfer, Ile - genetics Sequence Homology, Nucleic Acid Species Specificity |
| title | A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis |
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