MITOCHONDRIAL-DNA VARIANTS OBSERVED IN ALZHEIMER-DISEASE AND PARKINSON DISEASE PATIENTS
MITOCHONDRIAL-DNA VARIANTS OBSERVED IN ALZHEIMER-DISEASE AND PARKINSON DISEASE PATIENTS
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DOI：
10.1006/geno.1993.1299
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发表时间：
1993-07-01
期刊：
影响因子：
4.4
通讯作者：
WALLACE, DC
中科院分区：
文献类型：
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作者：
SHOFFNER, JM;BROWN, MD;WALLACE, DC
对71例晚发性高加索患者进行了限制性内切酶分析，寻找与阿尔茨海默病(AD)和帕金森病(PD)相关的线粒体DNA(MtDNA)变异。在接受调查的173名患者中，有9/173(5.2%)的患者存在tRNAGln基因突变，该突变改变了一个中等保守的核苷酸对(NP)4336，但在普通高加索人对照组中只有0.7%。其中一名患者在NP 956-965处有一个新的12S rRNA 5核苷酸插入，而另一名患者在NP 3397处有一个错义变异，将高度保守的蛋氨酸转化为Valine。在一个独立的AD+PD患者中也发现了后一种突变，在NP 3196处也发现了一个异质性16S rRNA变异。还需要进一步的研究来确定这些突变的重要性(如果有的话)。
Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNAGlngene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine. This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196. Additional studies will be required to determine the significance, if any, of these mutations.