Department of Neurology, Cardinal Tien Hospital, Taipei, Taiwan.
Clin Biochem. 2010 Aug;43(12):979-82. doi: 10.1016/j.clinbiochem.2010.05.009. Epub 2010 May 24.
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.
We examined the DNA genotypes of Val-9Ala and Ile+58Thr from 295 PD subjects and 111 controls by nucleotide sequencing and BsaWI restriction.
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.
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.
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。
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。
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。
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。