1. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
- Author
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Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, and Zeviani M
- Subjects
- Adolescent, Adult, Amino Acid Sequence, Amino Acid Substitution, DNA Helicases, DNA Mutational Analysis, DNA Polymerase gamma, England epidemiology, Female, Genes, Recessive, Humans, Italy epidemiology, Male, Middle Aged, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Missense, Ophthalmoplegia, Chronic Progressive External epidemiology, Point Mutation, Retrospective Studies, Sequence Alignment, Sequence Deletion, Sequence Homology, Amino Acid, Adenine Nucleotide Translocator 1 genetics, DNA Primase genetics, DNA, Mitochondrial genetics, DNA-Directed DNA Polymerase genetics, Ophthalmoplegia, Chronic Progressive External genetics
- Abstract
To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.
- Published
- 2003
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