Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
JM Shoffner, MT Lott, AMS Lezza, P Seibel… - Cell, 1990 - cell.com
JM Shoffner, MT Lott, AMS Lezza, P Seibel, SW Ballinger, DC Wallace
Cell, 1990•cell.comAn A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA)
has been identified as the cause of MERRF. The mutation alters the TI& loop of the tl?
NALys gene and creates a CviJl restriction site, providing a simple molecular diagnostic test
for the disease. This mutation was present in three independent MERRF pedigrees and
absent in 75 conk8ls, altered a conserved nucleotide, and was heteroplasmic. All MERRF
patients and their less-affected maternal relatives had between 2% and 27% wild-type …
has been identified as the cause of MERRF. The mutation alters the TI& loop of the tl?
NALys gene and creates a CviJl restriction site, providing a simple molecular diagnostic test
for the disease. This mutation was present in three independent MERRF pedigrees and
absent in 75 conk8ls, altered a conserved nucleotide, and was heteroplasmic. All MERRF
patients and their less-affected maternal relatives had between 2% and 27% wild-type …
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of MERRF. The mutation alters the TI& loop of the tl? NALys gene and creates a CviJl restriction site, providing a simple molecular diagnostic test for the disease. This mutation was present in three independent MERRF pedigrees and absent in 75 conk8ls, altered a conserved nucleotide, and was heteroplasmic. All MERRF patients and their less-affected maternal relatives had between 2% and 27% wild-type mtDNAs and showed an age-related association between genotype and phenotype. This suggests that a small percentage of normal mtDNAs has a large protective effect on phenotype. This mutation provides molecular confirmation that some forms of epilepsy are the result of deficiencies in mitochondrial energy production.
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