Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080099 | Neuromuscular Disorders | 2009 | 4 Pages |
Abstract
Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation. We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.
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Authors
Roberto Negro, Stefano Zoccolella, Rosa Dell’Aglio, Angela Amati, Lucia Artuso, Luigi Bisceglia, Vito Lavolpe, Sergio Papa, Luigi Serlenga, Vittoria Petruzzella,