Decreased thermal stability of red blood cellglu100→gly superoxide dismutase from a family with amyotrophic lateral sclerosis
- 24 July 1995
- journal article
- Published by Wiley in FEBS Letters
- Vol. 368 (3), 449-451
- https://doi.org/10.1016/0014-5793(95)00708-h
Abstract
Familial amyotrophic lateral sclerosis is a degenerative motor neuron disease associated in some cases with the presence of a mutant form of Cu/Zn superoxide dismutase. We have studied the stability of thegly100→glu mutant in extracts of red cells obtained from members of a family with a history of the disease. Extracts containing the mutant had an average 68% of normal superoxide dismutase activity. On heating at 65°C, these extracts lost activity at twice the rate of extracts containing only the normal enzyme. Decreased heat stability was also evident on native polyacrylamide gel electrophoresis with activity staining. This showed selective loss of first the mutant homodimer and then the heterodimer of the enzyme. Decreased stability intracellularly could be a factor in motor neuron degenerationKeywords
This publication has 13 references indexed in Scilit:
- Superoxide dismutase (glu100 → gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimersNeuroscience Letters, 1995
- A novel SOD mutant and ALSNature, 1995
- Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in
Cu Zn Journal of the Neurological Sciences, 1994 - A New Variant Cu/Zn Superoxide Dismutase (Val7→Glu) Deduced from Lymphocyte mRNA Sequences from Japanese Patients with Familial Amyotrophic Lateral SclerosisBiochemical and Biophysical Research Communications, 1994
- Cerebrospinal fluid levels of superoxide dismutases in neurological diseases detected by sensitive enzyme immunoassaysJournal of the Neurological Sciences, 1994
- Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase MutationScience, 1994
- A Novel Mutation in Cu/Zn Superoxide Dismutase Gene in Japanese Familial Amyotrophic Lateral SclerosisBiochemical and Biophysical Research Communications, 1994
- Amyotrophic Lateral Ssclerosis and Structural Defects in Cu,Zn Superoxide DismutaseScience, 1993
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 1993
- Hereditary amyotrophic lateral sclerosisJournal of the Neurological Sciences, 1981