Multiple sclerosisTuesday, June 23, 2009, 11:30 - 13:00
Homocysteine, vitamin B12, folic acid and MTHFR C677T mutation in MS patientsK. Kalamafkianaki, E. Nikolakaki, M. Foutouli, N. Kouroumalos, N. Giannakakis, M. Kontogiorgaki, D. Andrinos, A. Scordilaki, F. Samiotaki, N. Tsagarakis, G. Georgakakis (Chania, Athens, GR)
Objectives: There is increased interest in the role of homocysteine and Methylentetrahydrofolate reductase (MTHFR) gene mutations, B12 and folic acid levels in multiple sclerosis (MS) and other white matter lesions. Purpose of our study was to measure levels of homocysteine, B12, folic acid and percentage of MTHFR C677T gene mutation in our MS patients.
Methods: 33 patients investigated for possible MS were included in this study. 25 of them fulfilled the new McDonald criteria for definite MS and 8 for probable. Homocysteine, B12 and folic acid blood levels were checked in all patients. The MTHFR C667T mutation, common in Greek population (35%) was examined in: a) all patients who showed elevated homocysteine levels, b) all patients with possible MS and c) 6 definite MS patients selected randomly.
Results: B12 levels were within normal range for all patients. 3/33 (9%) showed folic acid deficiency whereas 4/33 (12.1%) high levels of homocysteine, results similar to those found among the general population. Concerning investigation for MTHFR C667T, heterozygous mutation was found in: a) 3/3 patients (1with possible, 2 with definite MS) with high blood homocysteine levels who were able to be checked, b) 3/6 (50%) of the rest of possible MS patients, c) 5/6 (87%) of the random sample of definite MS patients.
Conclusion: There is a highly increased percentage of MTHFR C667T gene mutation in our MS patients, (especially those with definite MS) compared to that met throughout the general population.