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Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients

Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients
Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients
Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder characterised by degeneration of upper and lower motor neurons. Whilst the primary pathogenic trigger is unknown in most cases, evidence is mounting to implicate a role for glutamate-mediated neurotoxicity in the disorder. Recent studies have shown reduced levels of the mainly astroglial glutamate transporter EAAT2 in ALS motor cortex and spinal cord and multiple abnormal EAAT2 mRNA species in ALS brain tissue. One cause of the low EAAT2 levels may be that point mutations in the EAAT2 gene, EAAT2, result in an abnormal unstable protein. To test this hypothesis we analysed EAAT2 in 128 sporadic and 23 familial European ALS cases. No variants within the coding sequence of EAAT2 to affect the protein sequence nor in the consensus splice sites of the flanking intronic sequences were found in any cases, similar to findings in other reports. Frequent polymorphisms within the flanking intronic sequences of both exons 2 and 4 were seen but at similar frequencies in controls. Mechanisms other than mutations within the coding region of EAAT2 must therefore be responsible for the low levels of EAAT2 seen in most cases of ALS.
0340-5354
1140-1144
Jackson, Mandy
d545b76e-503f-49d2-b016-5df96fda3721
Steers, Graham
9a73385b-079e-4a18-9775-8461bcc49a30
Leigh, P. Nigel
7f764ac0-9010-4831-9236-a40354cf61f9
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Jackson, Mandy
d545b76e-503f-49d2-b016-5df96fda3721
Steers, Graham
9a73385b-079e-4a18-9775-8461bcc49a30
Leigh, P. Nigel
7f764ac0-9010-4831-9236-a40354cf61f9
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8

Jackson, Mandy, Steers, Graham, Leigh, P. Nigel and Morrison, K.E. (1999) Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patients. Journal of Neurology, 246 (12), 1140-1144. (doi:10.1007/s004150050532).

Record type: Article

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder characterised by degeneration of upper and lower motor neurons. Whilst the primary pathogenic trigger is unknown in most cases, evidence is mounting to implicate a role for glutamate-mediated neurotoxicity in the disorder. Recent studies have shown reduced levels of the mainly astroglial glutamate transporter EAAT2 in ALS motor cortex and spinal cord and multiple abnormal EAAT2 mRNA species in ALS brain tissue. One cause of the low EAAT2 levels may be that point mutations in the EAAT2 gene, EAAT2, result in an abnormal unstable protein. To test this hypothesis we analysed EAAT2 in 128 sporadic and 23 familial European ALS cases. No variants within the coding sequence of EAAT2 to affect the protein sequence nor in the consensus splice sites of the flanking intronic sequences were found in any cases, similar to findings in other reports. Frequent polymorphisms within the flanking intronic sequences of both exons 2 and 4 were seen but at similar frequencies in controls. Mechanisms other than mutations within the coding region of EAAT2 must therefore be responsible for the low levels of EAAT2 seen in most cases of ALS.

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More information

Accepted/In Press date: 2 July 1999
Published date: December 1999
Organisations: Medical Education

Identifiers

Local EPrints ID: 398859
URI: http://eprints.soton.ac.uk/id/eprint/398859
ISSN: 0340-5354
PURE UUID: 41a97980-ec4a-4b2f-bf09-41c46a5dbfa0
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 02 Aug 2016 13:06
Last modified: 19 Nov 2019 01:32

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Contributors

Author: Mandy Jackson
Author: Graham Steers
Author: P. Nigel Leigh
Author: K.E. Morrison ORCID iD

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