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Trends Genet. 2000 Nov;16(11):500-5.

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

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Department of Neurology, The Medical School, NE2 4HH., Newcastle upon Tyne, UK.


The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are usually heteroplasmic, with a mixture of mutant and wild-type mtDNA within the same organism. A woman harbouring one of these mutations transmits a variable amount of mutant mtDNA to each offspring. This can result in a healthy child or an infant with a devastating and fatal neurological disorder. Understanding the biological basis of this uncertainty is one of the principal challenges facing scientists and clinicians in the field of mitochondrial genetics.

[Indexed for MEDLINE]

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