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Genetic polymorphism of catechol-O-methyltransferase (COMT) : Correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and Parkinsonian patients in Finland

Syvänen, Ann Christine; Tilgmann, Carola LU ; Rinne, Juha and Ulmanen, Ismo (1997) In Pharmacogenetics 7(1). p.65-71
Abstract

The catechol-O-methyltransferase (COMT) gene occurs as two polymorphic alleles, which code for a high activity thermostable and low activity thermolabile form of the enzyme. We devised a fast solid-phase minisequencing assay for genotyping the COMT gene at nucleotide position 544 encoding amino acid residue 158. The method was applied to correlate the genotype of the COMT gene with the biological activity of the COMT enzyme. In red blood cells from individuals homozygous for G at nucleotide position 544 coding for Val-158, the activity of COMT ranged from 0.55-1.03 pmol min-1 mg-1 protein, and in individuals homozygous for A at position 544 coding for Met-158, the activity ranged from 0.21-0.43 pmol... (More)

The catechol-O-methyltransferase (COMT) gene occurs as two polymorphic alleles, which code for a high activity thermostable and low activity thermolabile form of the enzyme. We devised a fast solid-phase minisequencing assay for genotyping the COMT gene at nucleotide position 544 encoding amino acid residue 158. The method was applied to correlate the genotype of the COMT gene with the biological activity of the COMT enzyme. In red blood cells from individuals homozygous for G at nucleotide position 544 coding for Val-158, the activity of COMT ranged from 0.55-1.03 pmol min-1 mg-1 protein, and in individuals homozygous for A at position 544 coding for Met-158, the activity ranged from 0.21-0.43 pmol min-1 mg-1. Heterozygotes showed intermediate activities of 0.20-0.88 pmol min-1 mg-1. The thermostability (heated/unheated) at 48°C of the high activity form was shown to be about two-fold compared to that of the low activity form of the enzyme. By analysing 76 individual samples and three pooled samples representing altogether 3140 individuals using the solid-phase minisequencing method, the two COMT alleles were shown to be equally distributed in the Finnish population. No statistically significant difference in the frequencies of the COMT allele was found when comparing the normal population with a sample of 158 Finnish patients with Parkinson's disease.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
catechol-O-methyltransferase, enzyme activity, genetic polymorphism, Parkinson's disease
in
Pharmacogenetics
volume
7
issue
1
pages
7 pages
publisher
Chapman and Hall
external identifiers
  • Scopus:0030904954
ISSN
0960-314X
DOI
10.1097/00008571-199702000-00009
language
English
LU publication?
no
id
f75932a7-4a45-4ef2-9970-6d9ea3d64aa0
date added to LUP
2016-04-11 13:17:57
date last changed
2016-06-29 09:01:28
@misc{f75932a7-4a45-4ef2-9970-6d9ea3d64aa0,
  abstract     = {<p>The catechol-O-methyltransferase (COMT) gene occurs as two polymorphic alleles, which code for a high activity thermostable and low activity thermolabile form of the enzyme. We devised a fast solid-phase minisequencing assay for genotyping the COMT gene at nucleotide position 544 encoding amino acid residue 158. The method was applied to correlate the genotype of the COMT gene with the biological activity of the COMT enzyme. In red blood cells from individuals homozygous for G at nucleotide position 544 coding for Val-158, the activity of COMT ranged from 0.55-1.03 pmol min<sup>-1</sup> mg<sup>-1</sup> protein, and in individuals homozygous for A at position 544 coding for Met-158, the activity ranged from 0.21-0.43 pmol min<sup>-1</sup> mg<sup>-1</sup>. Heterozygotes showed intermediate activities of 0.20-0.88 pmol min<sup>-1</sup> mg<sup>-1</sup>. The thermostability (heated/unheated) at 48°C of the high activity form was shown to be about two-fold compared to that of the low activity form of the enzyme. By analysing 76 individual samples and three pooled samples representing altogether 3140 individuals using the solid-phase minisequencing method, the two COMT alleles were shown to be equally distributed in the Finnish population. No statistically significant difference in the frequencies of the COMT allele was found when comparing the normal population with a sample of 158 Finnish patients with Parkinson's disease.</p>},
  author       = {Syvänen, Ann Christine and Tilgmann, Carola and Rinne, Juha and Ulmanen, Ismo},
  issn         = {0960-314X},
  keyword      = {catechol-O-methyltransferase,enzyme activity,genetic polymorphism,Parkinson's disease},
  language     = {eng},
  number       = {1},
  pages        = {65--71},
  publisher    = {ARRAY(0xb1e1cb8)},
  series       = {Pharmacogenetics},
  title        = {Genetic polymorphism of catechol-O-methyltransferase (COMT) : Correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and Parkinsonian patients in Finland},
  url          = {http://dx.doi.org/10.1097/00008571-199702000-00009},
  volume       = {7},
  year         = {1997},
}