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| THERMOLABILE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE AS A CAUSE OF MILD HYPERHOMOCYSTEINEMIA |
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| Author(s): ENGBERSEN AMT, FRANKEN DG, BOERS GHJ, STEVENS EMB, TRIJBELS FJM, BLOM HJ |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 56 Issue: 1 Pages: 142-150 Published: JAN 1995 |
| Times Cited: 310 References: 28 |
| Abstract: Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature vascular disease. Control subjects and vascular patients with mild hyperhomocysteinemia and with normohomocysteinemia were studied. The mean (+/-SD) specific MTHFR activity in lymphocytes of 22 control subjects was 15.6 (+/-4.7) nmol CH2O/mg protein/h (range: 9.1-26.6), and the residual activity (+/-SD) after heat inactivation for 5 min at 46 degrees C was 55.3 (+/-12.0)% (range: 35.9-78.3). By measurement of MTHFR activity, two distinct subgroups of hyperhomocysteinemic patients became evident. One group (n = 11) had thermolabile MTHFR with a mean (+/-SD) specific activity of 8.7 (+/-2.1) nmol CH2O/mg protein/h (range: 5.5-12.7) and a residual activity, after heat inactivation, ranging from 0% to 33%. The other group (n = 28) had normal specific activity (+/-SD) of 21.5 (+/-7.2) nmol CH2O/mg protein/h (range: 10.0-39.0) and a normal residual activity (+/-SD) of 53.8 (+/-9.2)% (range: 33.1-71.5) after heat inactivation. The mean (+/-SD) specific activity of 29 normohomocysteinemic patients was 20.7 (+/-6.5) nmol CH2O/mg protein/h (range: 9.4-33.8), and the mean (+/-SD) residual activity after heat inactivation was 58.2 (+/-10.2)% (range: 43.0-82.0). Thus, in 28% of the hyperhomocysteinemic patients with premature vascular disease, abnormal homocysteine metabolism could be attributed to thermolabile MTHFR. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV NIJMEGEN HOSP, DEPT PEDIAT, 6500 HB NIJMEGEN, NETHERLANDS
2. UNIV NIJMEGEN HOSP, DEPT MED, DIV ENDOCRINOL, 6500 HB NIJMEGEN, NETHERLANDS |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: QC101 |
| ISSN: 0002-9297 |
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