Sequence analysis of the entire mitochondrial genome in Parkinson's disease.

Sequence analysis of the entire mitochondrial genome in Parkinson's disease.
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帕金森病整个线粒体基因组的序列分析。

DOI:
10.1006/bbrc.2002.6388
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发表时间:
2002
期刊:
Biochemical and biophysical research communications.
影响因子:
--
通讯作者:
Lin,MichaelT
Lin,MichaelT
中科院分区:
--
文献类型:
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作者:
Vives-Bauza,Cristofol;Andreu,AntoniL;Manfredi,Giovanni;Beal,MFlint;Janetzky,Bernd;Gruenewald,ThomasH;Lin,MichaelT

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The pathogenesis of Parkinson's disease (PD) is largely unknown. Indirect evidence suggests that mutations in mitochondrial DNA (mtDNA) might play a role, but previous studies have not consistently associated any specific mutations with PD. However, these studies have generally been confined to limited areas of the mitochondrial genome. We therefore sequenced the entire mitochondrial genome from substantia nigra of 8 PD and 9 control subjects. Several sequence variants were distributed differently between PD and control subjects, but all were previously reported polymorphisms. Several secondary LHON mutations were found, as well as a number of novel missense mutations, but all were rare and did not differ between PD and control subjects. Finally, PD and control subjects did not differ in the total number of all mutations, nor the total number of missense mutations. Thus, mtDNA involvement in PD, if any, is likely to be complex and should be reconsidered carefully.