Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
Hyperhomocysteinemia (HHcy) is an independent risk factor for atherothrombotic diseases. Folic acid, vitamin B12 and the enzyme methylene-tetrahydrofolate reductase (MTHFR) are some of the components involved in homocysteine (Hcy) metabolism. The aim of the present study was to evaluate the clinical...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | JOUR |
| Materias: | |
| Acceso en línea: | http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon |
| Aporte de: |
| id |
todo:paper_03252957_v40_n3_p_Castanon |
|---|---|
| record_format |
dspace |
| spelling |
todo:paper_03252957_v40_n3_p_Castanon2023-10-03T15:23:39Z Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase Castañon, M.M. Lauricella, A.M. Genoud, V. Quintana, I.L. Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 Hyperhomocysteinemia (HHcy) is an independent risk factor for atherothrombotic diseases. Folic acid, vitamin B12 and the enzyme methylene-tetrahydrofolate reductase (MTHFR) are some of the components involved in homocysteine (Hcy) metabolism. The aim of the present study was to evaluate the clinical usefulness of homocysteinemia determination and the C677T polymorphism analysis of the MTHFR. Homocysteine (ELISA); folic acid and vitamin B12 levels (chemiluminescence) and C677T polymorphism of the MTHFR (PCR-RFLP) were evaluated in 112 healthy subjects. Twenty-five per cent of the population showed hyperhomocysteinemia (Hcy > 15 μM). Hcy levels in subjects with folate or B12 deficiency were significantly higher than those found in non deficient individuals (mean: 15.8 μM or 15.6 μM vs 12.5 μM). Homozygote subjects (TT) showed higher Hcy levels than heterozygote and normal individuals (14.5 μM, 13.3 μM and 12.5 μM, respectively). Forty per cent of the B12 deficient subjects, fifty-four per cent of the folate deficient individuals, forty-three per cent of the MTHFR-TT subjects and a hundred per cent of the MTHFR-TT individuals with B12 deficiency turned out to be hyperhomocysteinemic. Therefore, homocysteinemia determination could evidence the presence of an atherothrombotic risk factor and likely vitamin deficiencies. Moreover, MTHFR polymorphism determination makes it possible to detect an important genetic factor of hyperhomocysteinemia. © 2007 Federación Bioquímica de la Provincia de Buenos Aires. Fil:Castañon, M.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Lauricella, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Quintana, I.L. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 |
| spellingShingle |
Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 Castañon, M.M. Lauricella, A.M. Genoud, V. Quintana, I.L. Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| topic_facet |
Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 |
| description |
Hyperhomocysteinemia (HHcy) is an independent risk factor for atherothrombotic diseases. Folic acid, vitamin B12 and the enzyme methylene-tetrahydrofolate reductase (MTHFR) are some of the components involved in homocysteine (Hcy) metabolism. The aim of the present study was to evaluate the clinical usefulness of homocysteinemia determination and the C677T polymorphism analysis of the MTHFR. Homocysteine (ELISA); folic acid and vitamin B12 levels (chemiluminescence) and C677T polymorphism of the MTHFR (PCR-RFLP) were evaluated in 112 healthy subjects. Twenty-five per cent of the population showed hyperhomocysteinemia (Hcy > 15 μM). Hcy levels in subjects with folate or B12 deficiency were significantly higher than those found in non deficient individuals (mean: 15.8 μM or 15.6 μM vs 12.5 μM). Homozygote subjects (TT) showed higher Hcy levels than heterozygote and normal individuals (14.5 μM, 13.3 μM and 12.5 μM, respectively). Forty per cent of the B12 deficient subjects, fifty-four per cent of the folate deficient individuals, forty-three per cent of the MTHFR-TT subjects and a hundred per cent of the MTHFR-TT individuals with B12 deficiency turned out to be hyperhomocysteinemic. Therefore, homocysteinemia determination could evidence the presence of an atherothrombotic risk factor and likely vitamin deficiencies. Moreover, MTHFR polymorphism determination makes it possible to detect an important genetic factor of hyperhomocysteinemia. © 2007 Federación Bioquímica de la Provincia de Buenos Aires. |
| format |
JOUR |
| author |
Castañon, M.M. Lauricella, A.M. Genoud, V. Quintana, I.L. |
| author_facet |
Castañon, M.M. Lauricella, A.M. Genoud, V. Quintana, I.L. |
| author_sort |
Castañon, M.M. |
| title |
Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| title_short |
Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| title_full |
Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| title_fullStr |
Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| title_full_unstemmed |
Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase |
| title_sort |
importance of the determination of homocysteine and c667t polimorphism of methylenetetrahydrofolate reductase |
| url |
http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon |
| work_keys_str_mv |
AT castanonmm importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase AT lauricellaam importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase AT genoudv importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase AT quintanail importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase |
| _version_ |
1807324186853507072 |