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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Erythrocyte membrane acetylcholinesterase activity in subjects with MTHFR 677C→T genotype

Stylianos Tsakiris1 / Kleopatra H. Schulpis2 / Evangelos D. Papaconstantinou3 / Theodore Tsakiris4 / Ioanna Tjamouranis5 / Aglaia Giannoulia-Karantana6







Corresponding author: Stylianos Tsakiris, PhD, Associate Professor, Department of Experimental Physiology, Medical School, University of Athens, P.O. Box 65257, 15401 Athens, Greece

Citation Information: Clinical Chemical Laboratory Medicine. Volume 44, Issue 1, Pages 23–27, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2006.005, December 2005

Publication History

August 25, 2005
October 18, 2005
Published Online:


Background: Increased homocysteine (Hcy) blood levels are correlated with vascular and neurological problems.

Aim: The aim of the present study was to investigate erythrocyte membrane acetylcholinesterase (AChE) activity in subjects with the MTHFR C677T genotype in relation to Hcy.

Methods: Blood was obtained from 22 individuals with the MTHFR C677T genotype before and after folic acid supplementation and once from controls (n=30). Plasma folate, vitamin B12 and total antioxidant status (TAS) were measured with commercial kits, Hcy by a HPLC method and membrane enzyme activity spectrophotometrically.

Results: In MTHFR C677T carriers, AChE activity was significantly higher (4.20±0.12

× mg protein) and decreased to normal levels (3.14±0.10
× mg protein; p<0.001) after therapy. TAS differed slightly before and after treatment. Hcy levels were significantly higher before (22.4±2.8 μM) compared to after (12.1±2.0 μM; p<0.001) therapy and compared to controls (10.5±2.5 μmol/L; p<0.001). In an in vitro study, incubation of Hcy-activated membrane AChE from controls with phenylalanine resulted in restoration of activity, but failed to reverse the stimulated enzyme from hyperhomocysteinaemic MTHFR C677T subjects before therapy. Alanine incubation protected the enzyme from Hcy activation in controls.

Conclusions: Increased membrane AChE activity may be due to high Hcy levels. In vitro, phenylalanine reversed the Hcy activation of the membrane enzyme from controls and alanine protected it from Hcy action.

Keywords: L-alanine; erythrocyte membrane acetylcholinesterase; hyperhomocysteinaemia; L-phenylalanine

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