Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.
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.
Brown
Michael D
MD
Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, Georgia 31207, USA. Brown_md@mercer.edu
Hosseini
Seyed
S
Steiner
Israel
I
Wallace
Douglas C
DC
Korn-Lubetzki
Isabelle
I
D000328:Adult; D020029:Base Pairing / Q000235:genetics; D002421:Caudate Nucleus / Q000502:physiology; D002648:Child; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D007839:Functional Laterality / Q000235:genetics; D005838:Genotype; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011699:Putamen / Q000473:pathology; D012353:RNA, Transfer, Gly / Q000235:genetics; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations
D004272:DNA, Mitochondrial; D012353:RNA, Transfer, Gly