No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferase

Farzana Hoda; David Nicholl; Philip Bennett; Maria Arranz; Katherine J. Aitchison; Ammar Al-Chalabi; Hiroshi Kunugi; Homero Vallada; P. Nigel Leigh; K. Ray Chaudhuri; David A. Collier

doi:10.1006/bbrc.1996.1731

No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferase

Farzana Hoda, David Nicholl^*, Philip Bennett, Maria Arranz, Katherine J. Aitchison, Ammar Al-Chalabi, Hiroshi Kunugi, Homero Vallada, P. Nigel Leigh, K. Ray Chaudhuri, David A. Collier

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

86 Citations (Scopus)

Abstract

Idiopathic Parkinson's disease (IPD) is characterised by the loss of pigmented neurones in the substantia nigra, leading to reduced tyrosine hydroxylase activity and depletion of dopamine. Treatments attempt to correct this deficit by the use of levodopa and inhibitors of dopamine metabolising enzymes such as catechol-O-methytransferase (COMT). A common amino-acid polymorphism in COMT, valine-108-methionine, results in a low activity form of the enzyme which we hypothesised may influence susceptibility to IPD. We examined this polymorphism in 139 Caucasian subjects with IPD and 173 control subjects, using a PCR-RFLP and a novel Amplification Refractory Mutation System (ARMS) assay. Allele and genotype frequencies were similar in the affected and control subjects, indicating that variation of COMT activity is not an aetiological factor in IPD. We have also characterised a new polymorphism, 256C/G, which is not associated with IPD. However it remains possible that allelic variation in COMT influences severity, type of pathology or treatment response to levodopa or COMT inhibitors.

Original language	English
Pages (from-to)	780-784
Number of pages	5
Journal	Biochemical and Biophysical Research Communications
Volume	228
Issue number	3
DOIs	https://doi.org/10.1006/bbrc.1996.1731
Publication status	Published - 21 Nov 1996

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Hoda, F., Nicholl, D., Bennett, P., Arranz, M., Aitchison, K. J., Al-Chalabi, A., Kunugi, H., Vallada, H., Leigh, P. N., Chaudhuri, K. R., & Collier, D. A. (1996). No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferase. Biochemical and Biophysical Research Communications, 228(3), 780-784. https://doi.org/10.1006/bbrc.1996.1731

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abstract = "Idiopathic Parkinson's disease (IPD) is characterised by the loss of pigmented neurones in the substantia nigra, leading to reduced tyrosine hydroxylase activity and depletion of dopamine. Treatments attempt to correct this deficit by the use of levodopa and inhibitors of dopamine metabolising enzymes such as catechol-O-methytransferase (COMT). A common amino-acid polymorphism in COMT, valine-108-methionine, results in a low activity form of the enzyme which we hypothesised may influence susceptibility to IPD. We examined this polymorphism in 139 Caucasian subjects with IPD and 173 control subjects, using a PCR-RFLP and a novel Amplification Refractory Mutation System (ARMS) assay. Allele and genotype frequencies were similar in the affected and control subjects, indicating that variation of COMT activity is not an aetiological factor in IPD. We have also characterised a new polymorphism, 256C/G, which is not associated with IPD. However it remains possible that allelic variation in COMT influences severity, type of pathology or treatment response to levodopa or COMT inhibitors.",

author = "Farzana Hoda and David Nicholl and Philip Bennett and Maria Arranz and Aitchison, {Katherine J.} and Ammar Al-Chalabi and Hiroshi Kunugi and Homero Vallada and Leigh, {P. Nigel} and Chaudhuri, {K. Ray} and Collier, {David A.}",

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AU - Al-Chalabi, Ammar

AU - Kunugi, Hiroshi

AU - Vallada, Homero

AU - Leigh, P. Nigel

AU - Chaudhuri, K. Ray

AU - Collier, David A.

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No association between Parkinson's disease and low-activity alleles of catechol O-methyltransferase

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