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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
Amyotrophic lateral sclerosis (ALS) is a progressive paralytic disorder resulting from the degeneration of motor neurons in the brain and spinal cord and leading to death within 5 years of symptom onset. The great majority of ALS cases are sporadic, with the familial form (FALS) representing fewer than 10% of all cases. Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene have previously been identified as the underlying cause of approximately 20% of FALS cases. As the familial and sporadic forms of the disease are clinically similar, we have sought to determine whether such mutations in SOD-1 underlie any sporadic ALS cases. We have screened 155 sporadic cases by single-strand conformation polymorphism and have identified 4 sporadic cases that possess point mutations in exon 4 of the SOD-1 gene. Two of these mutations are identical to those previously reported in FALS cases. One mutation is novel, resulting in a frameshift at Val118 due to the replacement of G (first base in the last codon of exon 4) by AAAAC. This mutation results in a truncated SOD-1 protein due to the introduction of a stop codon three residues into exon 5.
0364-5134
803-807
Jackson, M
97380c1a-0410-4b91-9406-d567d1ff36c6
Al-Chalabi, A
db16bbda-7684-49b4-9b2d-9799c7dba33c
Enayat, Z E
aee7b8e7-376b-4941-871c-97232a0fa7cc
Chioza, B
9edab82f-0e19-42e5-bf3e-58ae57811ba3
Leigh, P N
ef65d5e4-b984-4cf8-95f3-732373cf0978
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Jackson, M
97380c1a-0410-4b91-9406-d567d1ff36c6
Al-Chalabi, A
db16bbda-7684-49b4-9b2d-9799c7dba33c
Enayat, Z E
aee7b8e7-376b-4941-871c-97232a0fa7cc
Chioza, B
9edab82f-0e19-42e5-bf3e-58ae57811ba3
Leigh, P N
ef65d5e4-b984-4cf8-95f3-732373cf0978
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8

Jackson, M, Al-Chalabi, A, Enayat, Z E, Chioza, B, Leigh, P N and Morrison, K.E. (1997) Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Annals of Neurology, 42 (5), 803-807. (doi:10.1002/ana.410420518). (PMID:9392581)

Record type: Article

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive paralytic disorder resulting from the degeneration of motor neurons in the brain and spinal cord and leading to death within 5 years of symptom onset. The great majority of ALS cases are sporadic, with the familial form (FALS) representing fewer than 10% of all cases. Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene have previously been identified as the underlying cause of approximately 20% of FALS cases. As the familial and sporadic forms of the disease are clinically similar, we have sought to determine whether such mutations in SOD-1 underlie any sporadic ALS cases. We have screened 155 sporadic cases by single-strand conformation polymorphism and have identified 4 sporadic cases that possess point mutations in exon 4 of the SOD-1 gene. Two of these mutations are identical to those previously reported in FALS cases. One mutation is novel, resulting in a frameshift at Val118 due to the replacement of G (first base in the last codon of exon 4) by AAAAC. This mutation results in a truncated SOD-1 protein due to the introduction of a stop codon three residues into exon 5.

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Published date: November 1997
Organisations: Medical Education

Identifiers

Local EPrints ID: 399549
URI: http://eprints.soton.ac.uk/id/eprint/399549
ISSN: 0364-5134
PURE UUID: 913f07ca-7f92-40fe-9a40-1f93856f1564
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 12:49
Last modified: 26 Nov 2019 01:32

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Contributors

Author: M Jackson
Author: A Al-Chalabi
Author: Z E Enayat
Author: B Chioza
Author: P N Leigh
Author: K.E. Morrison ORCID iD

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