(Journal Article): Analysis of mitochondrial targeting sequence and coding region polymorphisms of the manganese superox-ide dismutase gene in German Parkinson disease patients.
 
Grasbon-Frodl EM, Kosel S, Riess O, Muller U, Mehraein P, Graeber MB (Molecular Neuropathology Laboratory, Institute of Neuropathology, Ludwig-Maximilians-University, Munich, D-80337, Germany.)
 
IN: Bio-chem Biophys Res Commun 1999; 255(3):749-752

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ABSTRACT: Two polymorphisms of the MnSOD gene, Ile58Thr and Ala9Val, have been associated with Parkinson disease (PD). The Ile58Thr amino acid exchange affects the stability at the tetrameric interface of the enzyme and reduces the enzymatic activity of MnSOD while the Ala/Val substitution at position -9 of the mitochondrial targeting sequence (MTS) may lead to misdirected intracellular trafficking. We have analyzed 63 German Caucasian PD patients for possible sequence variation in the MTS as well as in exon 3 of the MnSOD gene. All 63 PD patients analyzed exhibited a T at nucleotide position 5777 in exon 3 of the MnSOD gene corresponding to ATA, or Ile at the peptide level, and no other sequence variants were found. In addition, both alleles of the Ala9Val polymorphism in the MTS of MnSOD were equally distributed between German PD patients and controls excluding this gene variant as a risk factor for PD in Caucasian subjects.

TYPE OF PUBLICATION: Original article

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• El Masry TM, Abou Zahra MA, El Tawil MM, Khalifa RA. Manganese Superoxide Dismutase Alanine to Valine Polymorphism and Risk of Neuropathy and Nephropathy in Egyptian Type 1 Diabetic Patients. Rev Diabetic Stud 2005. 2: 70-74.
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