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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenine Nucleotide Translocator 1 / genetics*
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Adolescent
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Adult
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Amino Acid Sequence
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Amino Acid Substitution
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DNA Helicases
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DNA Mutational Analysis
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DNA Polymerase gamma
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DNA Primase / genetics*
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DNA, Mitochondrial / genetics*
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DNA-Directed DNA Polymerase / genetics*
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England / epidemiology
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Female
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Genes, Recessive
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Humans
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Italy / epidemiology
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Male
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Middle Aged
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Mitochondrial Proteins
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Molecular Sequence Data
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Mutation, Missense
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Ophthalmoplegia, Chronic Progressive External / epidemiology
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Point Mutation
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Retrospective Studies
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Sequence Alignment
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Sequence Deletion
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Sequence Homology, Amino Acid
Substances
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Adenine Nucleotide Translocator 1
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DNA, Mitochondrial
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Mitochondrial Proteins
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DNA Primase
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DNA Polymerase gamma
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DNA-Directed DNA Polymerase
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POLG protein, human
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DNA Helicases
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TWNK protein, human