Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
basic_science · Level V
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Abstract
By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.
Medical subject headings
- DNA, Mitochondrial
- Ophthalmoplegia