Superoxide dismutase (glu100 → gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers

Victoria L. Calder, Neil M. Domigan, Peter M. George, Ivan M. Donaldson, Christine C. Winterbourn
1995 Neuroscience Letters  
Superoxide dismutase glu 1°° ~ gly, a mutation known to be associated with familial motor neuron disease (familial amyotrophic lateral sclerosis) has beea detected in one symptomatic and five of seven asymptomatic members of a family with a history of this disease. On average, the individuals with the mutation had 75% of normal red blood cell superoxide dismutase activity. Native polyacrylamide gels stained for superoxide dismutase activity showed two abnormal bands in the family members
more » ... ied as carrying the mutation. This indicates that active mutant enzyme is present in red cells and forms stable homodimers and heterodimers with the normal chain. A silent mtttation in exon 4, not associated with motor neuron disease, was also detected in one family member.
doi:10.1016/0304-3940(95)11476-d pmid:7624031 fatcat:qvaysjt75nf6zjqejotccsceye