OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

@article{Han2006OPA1MA,
  title={OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy},
  author={Jian Han and Angela J Thompson-Lowrey and Alyson B Reiss and Vladimir Mayorov and Haomiao Jia and V Biousse and N J Newman and Michael D. Brown},
  journal={Genetics in Medicine},
  year={2006},
  volume={8},
  pages={217-225}
}
Purpose: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease.Methods: To find novel pathogenic OPA1 mutations, we performed complete OPA1 gene exon sequencing in… CONTINUE READING