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

From the Departments of Genetics and Molecular Medicine (Drs. Horton, Corral-Debrinski, Shoffner, Kaufman, and Wallace, and B.H. Graham) and Neurology (Drs. Shoffner and Wallace), Emory University School of Medicine, Atlanta, GA; and the Department of Neurology (Dr. Beal), Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Study conducted under the auspices of the Center for Molecular Medicine (Neuromuscular Center). Additional support was provided by the Clinical Research Center (NIH M01RR-00039) and the Alzheimer's Disease Center (NIH 1P30AG10130) of Emory University School of Medicine. Funding was also provided by NIH grants NS21328, NS30164, and HL45572 and a Muscular Dystrophy Foundation Clinical Research grant awarded to D.C.W., NIH postdoctoral fellowship grant CA09329 to T.M.H., an Association Francaise Contre les Myopathies grant to M.C-D., NIH CIDA grant NS10336 to J.M.S., and NIH grant 5P50AG05134 to M.F.B.
Received January 11, 1995. Accepted in final form February 22, 1995.
Address correspondence and reprint requests to Dr Wallace, Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322.

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

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