Scientific background: |
SOD2(Superoxide Dismutase 2), also called IPO-B or MNSOD, is a mitochondrial matrix enzyme that
scavenges oxygen radicals produced by the extensive oxidation-reduction and electron transport
reactions occurring in mitochondria. This gene is a member of the iron/manganese superoxide
dismutase family. Using a somatic cell hybrid panel containing different segments of chromosome 6,
they demonstrated that SOD2 is located in the region 6q25.3-qter which, together with the FISH
analysis, indicated that SOD2 is in the distal portion of 6q25. The SOD2 gene encodes an
intramitochondrial free radical scavenging enzyme that is the first line of defense against superoxide
produced as a byproduct of oxidative phosphorylation. Adeno-associated viral delivery of the
human SOD2 gene resulted in suppression of optic nerve degeneration and rescue of retinal ganglion
cells. The findings suggested that reactive oxygen species contributed to retinal cell death and optic
nerve damage in mice with complex I deficiency, and that expression of SOD2 attenuated the disease
process. |
References: |
1. Bastaki, M., Huen, K., Manzanillo, P., Chande, N., Chen, C., Balmes, J. R., Tager, I. B., Holland,
N. Genotype-activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and
catalase in humans. Pharmacogenet. Genomics 16: 279-286, 2006.
2. Creagan, R., Tischfield, J., Ricciuti, F., Ruddle, F. H. Chromosome assignments of genes in man
using mouse-human somatic cell hybrids: mitochondrial superoxide dismutase (indophenol
oxidase-B, tetrameric) to chromosome 6. Humangenetik 20: 203-209, 1973.
3. Hiroi, S., Harada, H., Nishi, H., Satoh, M., Nagai, R., Kimura, A. Polymorphisms in the SOD2 and
HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in
Japanese. Biochem. Biophys. Res. Commun. 261: 332-339, 1999. |