Large-scale mitochondrial DNA deletions in patients with CPEO syndrome in Taiwan

E. K. Wang, K. P. Kao, R. H. Hsieh, C. Y. Lu, C. Y. Pang, Y. H. Wei

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We investigated the mtDNA mutations in muscle biopsies obtained from eight Chinese patients with chronic progressive external ophthalmoplegia by Southern blot analysis and direct DNA sequencing. The results showed that a common 4,977 bp deletion is present in the muscle of five of these patients and the proportions of the mutant mtDNA were 76%, 46%, 66%, 60%, and 86%, respectively. The patients who harbored higher proportions of the 4,977 bp deleted mtDNA tended to have more severe clinical phenotype and earlier onset of the disease. This is the first report of Chinese patients with CPEO syndrome who are associated with the 4,977 bp deletion of mtDNA. Moreover, these findings are consistent with the previous reports that large-scale deletions of mtDNA are present in the target tissues of patients with CPEO syndrome.

Original languageEnglish
Pages (from-to)165-170
Number of pages6
JournalJournal of Biochemistry, Molecular Biology and Biophysics
Volume1
Issue number3
Publication statusPublished - 1998
Externally publishedYes

Fingerprint

Chronic Progressive External Ophthalmoplegia
Mitochondrial DNA
Taiwan
Muscle
Muscles
Biopsy
Southern Blotting
DNA Sequence Analysis
Tissue
Phenotype
Mutation
DNA

Keywords

  • CPEO syndrome
  • Large-scale deletion
  • Mitochondrial DNA

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Genetics
  • Molecular Biology

Cite this

Large-scale mitochondrial DNA deletions in patients with CPEO syndrome in Taiwan. / Wang, E. K.; Kao, K. P.; Hsieh, R. H.; Lu, C. Y.; Pang, C. Y.; Wei, Y. H.

In: Journal of Biochemistry, Molecular Biology and Biophysics, Vol. 1, No. 3, 1998, p. 165-170.

Research output: Contribution to journalArticle

Wang, E. K. ; Kao, K. P. ; Hsieh, R. H. ; Lu, C. Y. ; Pang, C. Y. ; Wei, Y. H. / Large-scale mitochondrial DNA deletions in patients with CPEO syndrome in Taiwan. In: Journal of Biochemistry, Molecular Biology and Biophysics. 1998 ; Vol. 1, No. 3. pp. 165-170.
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