Regular ArticleAccumulation of Somatic Nucleotide Substitutions in Mitochondrial DNA Associated with the 3243 A-to-G tRNALeu(UUR)Mutation in Encephalomyopathy and Cardiomyopathy
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Cited by (33)
Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy
2007, Journal of the Neurological SciencesRapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA<sup>ser(UCN)</sup> gene
2006, Neuromuscular DisordersCitation Excerpt :The clinical variability of many mtDNA mutations could be caused by different genetic backgrounds, mitochondrial or nuclear or both [30]. ‘Environmental’ factors could interact with genetic factors, amplifying their effect [30–32]. Peculiarly in our case, beside COX-negative fibers in a very high percentage, ragged-red fibers are also present in patient and his mother's biopsies.
Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations
2004, Biochemical and Biophysical Research CommunicationsCitation Excerpt :Some variants are more frequent than others; in particular, we found the 8860 G in 100% of the cases, the 1438 G and 4769 G in the 83% of the cases, the 750 G, 2706 G, 3423 T, and 15326 G in the 66% of the cases, while some known polymorphisms are present only in one patient. There is evidently a different genetic mitochondrial background which can further determine the phenotype, or, as previously discussed for the novel C3340 T mtDNA mutation, environmental factors could interact with genetic factors (mitochondrial or nuclear or both), amplifying their effect [16,17]. All these findings may have useful implications for genetic counselling.
Mitochondrial Mutations in Parkinson's Disease and Dystonias
2003, Genetics of Movement DisordersMitochondrial DNA mutations and oxidative stress in mitochondrial diseases
2003, Advances in Clinical Chemistry
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