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锰超氧化物歧化酶 Val-9Ala 和 Ile+58Thr 多态性与帕金森病。

Val-9Ala and Ile+58Thr polymorphism of MnSOD in Parkinson's disease.

机构信息

Department of Neurology, Cardinal Tien Hospital, Taipei, Taiwan.

出版信息

Clin Biochem. 2010 Aug;43(12):979-82. doi: 10.1016/j.clinbiochem.2010.05.009. Epub 2010 May 24.

Abstract

OBJECTIVES

To investigate the polymorphism distribution of Val-9Ala and Ile+58Thr of the Mn-superoxide dismutase (Mn-SOD) gene among subjects with Parkinson's disease (PD) by analyses of genders and clinical severity.

DESIGN AND METHODS

We examined the DNA genotypes of Val-9Ala and Ile+58Thr from 295 PD subjects and 111 controls by nucleotide sequencing and BsaWI restriction.

RESULTS

Ala/Ala homozygosity was found in four PD subjects but not in the controls. All of the genotypes at codon +58 among the examined samples were Ile/Ile homozygotes. Although higher carrier rate of Ala allele among PD subjects than the controls, there were no differences by analyses of the genders and clinical severity.

CONCLUSION

The higher Ala-allele carrier rate among PD subjects may suggest a possible higher amount of mitochondrial Mn-SOD rendering higher intracellular stress in PD. In this study the polymorphisms at codons -9 and+58 did not give informative association evidences with PD.

摘要

目的

通过分析性别和临床严重程度,研究帕金森病(PD)患者锰超氧化物歧化酶(Mn-SOD)基因 Val-9Ala 和 Ile+58Thr 的多态性分布。

设计与方法

我们通过核苷酸测序和 BsaWI 限制分析,检测了 295 名 PD 患者和 111 名对照者的 Val-9Ala 和 Ile+58Thr 的 DNA 基因型。

结果

在 4 名 PD 患者中发现 Ala/Ala 纯合子,但在对照组中没有发现。在检测的样本中,+58 密码子的所有基因型均为 Ile/Ile 纯合子。虽然 PD 患者中 Ala 等位基因的携带率高于对照组,但在性别和临床严重程度分析中没有差异。

结论

PD 患者中 Ala 等位基因的携带率较高,可能表明线粒体 Mn-SOD 的含量较高,导致 PD 细胞内应激增加。在这项研究中,密码子-9 和+58 的多态性没有提供与 PD 相关的信息。

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