Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy. |
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| Authors: | Michael D Brown Seyed Hosseini Israel Steiner Douglas C Wallace Isabelle Korn-Lubetzki |
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| Institution: | Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, Georgia 31207, USA. Brown_md@mercer.edu |
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| Abstract: | The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA(Gly) mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family. |
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| Keywords: | mitochondria dystonia optic atrophy mtDNA mutations |
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