Title : Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Pub. Date : 2020 Jan

PMID : 31494578






8 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
2 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
3 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
4 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
5 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
6 This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O2 - ) into H2O2. Oxygen superoxide dismutase 2 Homo sapiens
7 Measurement of hydroethidine oxidation showed a significant increase in O2 - levels in the patient"s skin fibroblasts, as compared with controls, and this was paralleled by reduced catalytic activity of SOD2 in patient fibroblasts and muscle. Oxygen superoxide dismutase 2 Homo sapiens
8 CONCLUSION: Our results provide evidence that defective SOD2 may lead to toxic increases in the levels of damaging oxygen radicals in the neonatal heart, which can result in rapidly developing heart failure and death. Oxygen superoxide dismutase 2 Homo sapiens