Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

2012 ◽  
Vol 22 (6) ◽  
pp. 511-521 ◽  
Author(s):  
Rune Østern ◽  
Toril Fagerheim ◽  
Kristin Ørstavik ◽  
Trygve Holmøy ◽  
Arvid Heiberg ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Superoxide Dismutase 1 ◽  
Hereditary Motor

P082 Interleukin (IL)-6 deficiency does not affect motor neuron disease caused by superoxide dismutase 1 mutation

Cytokine ◽  
2012 ◽  
Vol 59 (3) ◽  
pp. 545
Author(s):  
X. Yongmei ◽  
M. Fujimoto ◽  
T. Ohkawara ◽  
L. Yang ◽  
S. Serada ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Superoxide Dismutase 1

scholarly journals Genetic model of motor neuron disease in B6SJL-Tg mice: new data on the dynamics of motor symptoms and immunohistochemical manifestations of the neurodegenerative process

2020 ◽  
Vol 10 (3) ◽  
pp. 63-73
Author(s):  
А. V. Stavrovskaya ◽  
D. N. Voronkov ◽  
E. A. Artyomova ◽  
B. V. Belugin ◽  
М. М. Shmarov ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Morphological Changes ◽  
New Drugs ◽  
Mutant Form ◽  
Superoxide Dismutase 1 ◽  
Neurodegenerative Process ◽  
Familial Form

Introduction. Over the past several decades, the study of mutations associated with motor neuron disease has led to the development of a number of transgenic animal models of motor neuron disease. One of the causes of the familial form of this disorder is mutations in the gene encoding Cu/Zn superoxide dismutase 1. The B6SJL-Tg (SOD1*G93A) mouse strain expresses a mutant form of human superoxide dismutase 1. Aim of study. To assess motor functions, dynamics of survival, and morphological changes in the spinal cord of transgenic B6SJL-Tg (SOD1*G93A) mice. Material and methods. In total, 31 animals have been studied. Starting from the age of 22 weeks, once every two weeks, the “open field” and “beam walking” motor tests were performed. The morphological changes in the spinal cord were evaluated at intermediate (26–35 weeks) and late stages (40–45 weeks). Neuronal proteins NeuN and PGP9.5, gliofibrillar protein, cyclonucleotide phosphatase (a marker of oligodendroglia) and a marker protein of microglia IBA1 were detected by immunohistochemistry; antibodies MTC02 to the outer membrane protein were used to detect mitochondria. Results. Motor problems appeared at the age of 24–26 weeks and steadily progressed; one could see consistent paresis of the hindlimbs, then the forelimbs, which was accompanied by general hypotrophy of the animals. There was a greater variability in the timing of symptom onset and life expectancy in males compared to females. The neurodegenerative process with damage to motor neurons was accompanied by the activation of micro- and astroglia. A sharp decrease in immunoreactivity to the mitochondrial marker MTC02 was found. Conclusion. The obtained results demonstrate new details of the development of a complex of motor and pathomorphological changes characteristic of motor neuron disease in B6SJL-Tg (SOD1*G93A) mice. Clarification of the fine dynamics of the neurodegenerative process in these animals is of great importance for monitoring the course of the disease during preclinical trials of new drugs and methods of gene therapy.

scholarly journals Motor Neuron Disease in Mice Expressing the Wild Type-Like D90A Mutant Superoxide Dismutase-1

2006 ◽  
Vol 65 (12) ◽  
pp. 1126-1136 ◽  
Author(s):  
P. Andreas Jonsson ◽  
Karin S. Graffmo ◽  
Thomas Brännström ◽  
Peter Nilsson ◽  
Peter M. Andersen ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Superoxide Dismutase 1 ◽  
Wild Type

scholarly journals Variation in the vulnerability of mice expressing human superoxide dismutase 1 to prion-like seeding: a study of the influence of primary amino acid sequence

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Jacob I. Ayers ◽  
Guilian Xu ◽  
Kristy Dillon ◽  
Qing Lu ◽  
Zhijuan Chen ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Superoxide Dismutase 1 ◽  
Primary Sequence ◽  
Newborn Mice ◽  
Adult Mice ◽  
Ability To Act ◽  
Human Sod1

AbstractMisfolded forms of superoxide dismutase 1 (SOD1) with mutations associated with familial amyotrophic lateral sclerosis (fALS) exhibit prion characteristics, including the ability to act as seeds to accelerate motor neuron disease in mouse models. A key feature of infectious prion seeding is that the efficiency of transmission is governed by the primary sequence of prion protein (PrP). Isologous seeding, where the sequence of the PrP in the seed matches that of the host, is generally much more efficient than when there is a sequence mis-match. Here, we used paradigms in which mutant SOD1 seeding homogenates were injected intraspinally in newborn mice or into the sciatic nerve of adult mice, to assess the influence of SOD1 primary sequence on seeding efficiency. We observed a spectrum of seeding efficiencies depending upon both the SOD1 expressed by mice injected with seeds and the origin of the seed preparations. Mice expressing WT human SOD1 or the disease variant G37R were resistant to isologous seeding. Mice expressing G93A SOD1 were also largely resistant to isologous seeding, with limited success in one line of mice that express at low levels. By contrast, mice expressing human G85R-SOD1 were highly susceptible to isologous seeding but resistant to heterologous seeding by homogenates from paralyzed mice over-expressing mouse SOD1-G86R. In other seeding experiments with G85R SOD1:YFP mice, we observed that homogenates from paralyzed animals expressing the H46R or G37R variants of human SOD1 were less effective than seeds prepared from mice expressing the human G93A variant. These sequence mis-match effects were less pronounced when we used purified recombinant SOD1 that had been fibrilized in vitro as the seeding preparation. Collectively, our findings demonstrate diversity in the abilities of ALS variants of SOD1 to initiate or sustain prion-like propagation of misfolded conformations that produce motor neuron disease.

scholarly journals Distinctive features of the D101N and D101G variants of superoxide dismutase 1; two mutations that produce rapidly progressing motor neuron disease

2013 ◽  
Vol 128 (2) ◽  
pp. 305-314 ◽  
Author(s):  
Jacob Ayers ◽  
Herman Lelie ◽  
Aron Workman ◽  
Mercedes Prudencio ◽  
Hilda Brown ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Superoxide Dismutase 1 ◽  
Distinctive Features

scholarly journals Interleukin-6 Deficiency Does Not Affect Motor Neuron Disease Caused by Superoxide Dismutase 1 Mutation

PLoS ONE ◽  
2016 ◽  
Vol 11 (4) ◽  
pp. e0153399 ◽  
Author(s):  
Yongmei Han ◽  
Barry Ripley ◽  
Satoshi Serada ◽  
Tetsuji Naka ◽  
Minoru Fujimoto
Keyword(s):  
Superoxide Dismutase ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Interleukin 6 ◽  
Superoxide Dismutase 1
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