Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

@article{Rosen1993MutationsIC,
  title={Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis},
  author={Daniel R. Rosen and Teepu Siddique and David Patterson and Denise A. Figlewicz and P Sapp and Afif Hentati and D M Donaldson and Jun Goto and Jeremiah P. O'Regan and Han-Xiang Deng and Zohra Rahmani and Aldis Krizus and Diane M. McKenna-Yasek and Annarueber Cayabyab and Sandra M Gaston and Ralph Berger and Rudolph E. Tanzi and John J Halperin and B Herzfeldt and Raymond van den Bergh and Wu Yen Hung and Thomas D. Bird and Gang Deng and Donald W. Mulder and C Smyth and Nigel G. Laing and Edwin Soriano and Margaret A. Pericak-Vance and Jonathan L. Haines and Guy A. Rouleau and James S. Gusella and H. Robert Horvitz and Robert H. Brown},
  journal={Nature},
  year={1993},
  volume={362},
  pages={59-62}
}
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within five years3. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the sixth decade4,5. In most instances, sporadic and autosomal dominant familial ALS (FALS) are clinically similar4,6,7. We have previously shown that in some but not all FALS pedigrees the disease is… 
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Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
TLDR
The results suggest that the SOD1 analysis is useful in FALS but less so in SALS cases, and the SSCP analysis has proved fast and reliable for this purpose.
Rapid Communication: Cu/Zn Superoxide Dismutase Activity in Familial and Sporadic Amyotrophic Lateral Sclerosis
TLDR
It is indicated that SOD1 activity is reduced in these FALS patients but not in sporadic ALS patients, and this S OD1 enzyme abnormality is detectable years before onset of clinical ALS in carriers of this FALS mutation.
Familial amyotrophic lateral sclerosis and Cu/Zn superoxide dismutase mutation
TLDR
Biochemical investigations have provided evidence that mutant SOD1 may catalyze the peroxynitrite‐mediated nitration of protein tyrosine residues, release copper and zinc ions, facilitate apoptosis of neurons and have enhanced peroxidase activity, and observations in Sod1‐linked familial ALS and its transgenic mouse model suggest a novel neurotoxic function.
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
TLDR
The results suggest that SOD 1 mutations are responsible for > or = 13% of FALS cases, and two mutations alter amino acids that have never been implicated in FALS.
Molecular Analyses of the Cu/Zn Superoxide Dismutase Gene in Patients with Familial Amyotrophic Lateral Sclerosis (ALS) in Japan
TLDR
The results indicate that the progression of disease with mutations of Cu/Zn SOD is well correlated with each mutation, and the exact mechanism by which the abnormal Cu/ Zn S OD molecules selectively affect the function of motor neurons is still unknown.
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: Analysis of 155 cases and identification of novel insertion mutation
TLDR
This work has screened 155 sporadic cases by single‐strand conformation polymorphism and identified 4 sporadic cases that possess point mutations in exon 4 of the SOD‐1 gene, two of which are identical to those previously reported in FALS cases.
Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
  • P. Andersen
  • Biology
    Current neurology and neuroscience reports
  • 2006
This review highlights recent epidemiologic, clinical-genetic, and neurochemical advances in our understanding of sporadic amyotrophic lateral sclerosis (ALS) and their relationships to familial ALS…
Neuropathology of familial amyotrophic lateral sclerosis patients with superoxide dismutase 1 gene mutation
TLDR
It is noteworthy that all patients with alanine to valine substitution at codon 4 (A4V) mutation of SOD1 in familial ALS apparently disclose a distinct characteristic phenotype.
Distribution of MnSOD polymorphisms in sporadic ALS patients
TLDR
The entire coding region of MnSOD is sequenced from 20 SALS patients and 10 controls with no point mutations found and a previously described polymorphism at the -9 position of the mi tochondr ia l targeting sequence (MTS) replacing an alanine with a valine which has been predicted to cause a complete loss of helicity within the MTS.
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References

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Linkage analysis in familial amyotrophic lateral sclerosis
TLDR
A DNA bank established to provide optimum use of available FALS families provided DNA from immortalized lymphoblast cell lines and frozen postmortem tissue, but could not link FALS to any of the markers studied, and excluded chromosome regions unlikely to be a locus of the FALS gene.
Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.
TLDR
The localization of a gene causing familial amyotrophic lateral sclerosis provides a means of isolating this gene and studying its function, and insight gained from understanding the function of this gene may be applicable to the design of rational therapy for both the familial and sporadic forms of the disease.
Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management
TLDR
The serious implications of the diagnosis of ALS make it mandatory to exclude similar potentially treatable disorders.
Amyotrophic leteral sclerosis: Part 2. Etiopathogenesis
The pathogenesis of the motor neuronal degeneration in amyotrophic lateral sclerosis (ALS) is unclear, though several possible etiological factors are currently being investigated. A unifying…
Down's syndrome: Abnormal neuromuscular junction in tongue of transgenic mice with elevated levels of human Cu/Zn-superoxide dismutase
Genetic and biochemical characterization of Cu,Zn superoxide dismutase mutants in Saccharomyces cerevisiae.
TLDR
The biochemical data indicate that this genetic alteration results in the synthesis of a collection of SOD-1 polypeptides that fail to bind copper and may also fail to completely self-associate.
Familial adult motor neuron disease: amyotrophic lateral sclerosis
TLDR
Clinical and laboratory examinations of all three forms of MND were similar in clinical course and findings, but there were minor variations in age at onset, sex ratio, survival, and the frequency with which onset occurred in the lower extremities.
Down's syndrome: morphological remodelling and increased complexity in the neuromuscular junction of transgenic CuZn-superoxide dismutase mice
TLDR
The data are in line with the possibility that CuZn-superoxide dismutase-transgenic mice are undergoing premature ageing with respect to neuromuscular junction morphology, most probably owing to a gene dosage effect of CuZN- superoxide dismUTase.
Familial motor neuron disease
Based on a clinical, pathologic, and genetic study of 14 families, at least three types of familial motor neuron disease can be distinguished, all apparently of autosomal dominant transmission. The…
Premature aging changes in neuromuscular junctions of transgenic mice with an extra human CuZnSOD gene: A model for tongue pathology in Down's syndrome
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