MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS
MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS
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DOI：
10.1212/wnl.45.10.1879
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发表时间：
1995-10-01
期刊：
影响因子：
9.9
通讯作者：
WALLACE, DC
中科院分区：
文献类型：
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作者：
HORTON, TM;GRAHAM, BH;WALLACE, DC
为了确定体细胞线粒体DNA突变是否与亨廷顿病(HD)的神经退行性变有关，我们用系列稀释-聚合酶链式反应方法对HD患者和年龄匹配的对照组大脑皮质和壳核中常见的线粒体4977核苷酸对缺失(mtDNA(4977))的数量进行了定量。分析了颞叶、额叶和枕叶的皮质缺失水平。与年龄匹配的对照组相比，HD颞叶的平均mtDNA缺失水平(4977)高出2倍，而HD额叶的平均mtDNA缺失水平高出5倍。HD枕叶和壳核缺失水平与对照水平相当。这些结果支持HD与皮质mtDNA损伤升高有关的假设。
To determine if somatic mtDNA mutations might contribute to the neurodegeneration observed in con era Huntington's disease (HD), we quantitated the amount of the common mitochondrial 4977 nucleotide pair deletion (mtDNA(4977)) 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 Ii-fold greater mean mtDNA(4977) 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.