Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants

MJ Lindberg, R Byström, N Boknäs… - Proceedings of the …, 2005 - National Acad Sciences
MJ Lindberg, R Byström, N Boknäs, PM Andersen, M Oliveberg
Proceedings of the National Academy of Sciences, 2005National Acad Sciences
Amyotrophic lateral sclerosis is a neurodegenerative syndrome associated with 114
mutations in the gene encoding the cytosolic homodimeric enzyme Cu/Zn superoxide
dismutase (SOD). In this article, we report that amyotrophic lateral sclerosis-associated SOD
mutations with distinctly different disease progression can be rationalized in terms of their
folding patterns. The mutations are found to perturb the protein in multiple ways; they
destabilize the precursor monomers (class 1), weaken the dimer interface (class 2), or both …
Amyotrophic lateral sclerosis is a neurodegenerative syndrome associated with 114 mutations in the gene encoding the cytosolic homodimeric enzyme Cu/Zn superoxide dismutase (SOD). In this article, we report that amyotrophic lateral sclerosis-associated SOD mutations with distinctly different disease progression can be rationalized in terms of their folding patterns. The mutations are found to perturb the protein in multiple ways; they destabilize the precursor monomers (class 1), weaken the dimer interface (class 2), or both at the same time (class 1 + 2). A shared feature of the mutational perturbations is a shift of the folding equilibrium toward poorly structured SOD monomers. We observed a link, coupled to the altered folding patterns, between protein stability, net charge, and survival time for the patients carrying the mutations.
National Acad Sciences