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

• Published in: Clinical biochemistry 2010-08, Vol.43 (12), p.979-982
• Main Authors: Wang, Vinchi, Chen, Shao-Yuan, Chuang, Tzu-Chao, Shan, Din-E, Soong, Bing-Wen, Kao, Ming-Ching
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Genetic polymorphism; Genetic Predisposition to Disease - genetics; Genotype; Humans; Male; Medical sciences; Middle Aged; Mn-SOD; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Parkinson disease; Parkinson Disease - enzymology; Parkinson Disease - genetics; Polymorphism, Genetic - genetics; Polymorphism, Restriction Fragment Length - genetics; Superoxide Dismutase - genetics
• ISSN: 0009-9120; 1873-2933
• DOI: 10.1016/j.clinbiochem.2010.05.009

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.