Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

TM Horton, BH Graham, M Corral-Debrinski… - Neurology, 1995 - AAN Enterprises
TM Horton, BH Graham, M Corral-Debrinski, JM Shoffner, AE Kaufman, MF Beal
Neurology, 1995AAN Enterprises
To determine if somatic mtDNA mutations might contribute to the neurodegeneration
observed in Huntington's disease (HD), we quantitated the amount of the common
mitochondrial 4977 nucleotide pair deletion (mtDNA4977) in cortex and putamen of HD
patients and age-matched controls by the serial dilution-polymerase chain reaction method.
Cortical deletion levels were analyzed in the temporal, frontal, and occipital lobes. HD
temporal lobes had an 11-fold greater mean mtDNA4977 deletion level than age-matched …
To determine if somatic mtDNA mutations might contribute to the neurodegeneration observed in Huntington's disease (HD), we quantitated the amount of the common mitochondrial 4977 nucleotide pair deletion (mtDNA4977) in cortex and putamen of HD patients and age-matched controls by the serial dilution-polymerase chain reaction method. Cortical deletion levels were analyzed in the temporal, frontal, and occipital lobes. HD temporal lobes had an 11-fold greater mean mtDNA4977 deletion level than age-matched controls, and HD frontal lobes had fivefold greater levels. HD occipital lobe and putamen deletion levels were comparable with control levels. These results support the hypothesis that HD is associated with elevated cortical mtDNA damage.
NEUROLOGY 1995;45: 1879-1883
American Academy of Neurology