The Study On The Relationship Among The MTHFR Gene Mutation And The Deficiency Of Folic Acid , VitaminB₁₂ And The Occurrence Of Cerebral Infarction In Young Adult

Objectives To investigate the relationship between thehyperhomocystinemia(Hhcy) and cerebral infarction in young adults. And analyze the related factors which can lead to Hhcy ,mainly about the genetic factor as MTHFR gene C677T polymorphisms and the serum folic acid , vitamin Bi2 , to find the new pathway for the prevention of cerebral infarction .Methods MTHFR gene C677T polymorphisms were analyzed by PCR-RFLP technology , the fast and after methionine-loading plasma they levels were detected by high performance liquid chromatography method , the concentration of serum folic acid and vitamin B12 were measured by chemiluminescent method , serum lipids and glucose were detected by routine methods in 85 patients with cerebral infarction and 44 normal individuals .Results (1) The mean fast plasma they in case group were 22.49 mol/L , after methionine-loading test they got to 48.07 mol/L ,higher than that of the normal group 13.08 mol/L and 37.23 mol/L (P<0.01). (2) In case group, 68.24% patients had Hhcy , significantly higher than that of normal group which was 9.09% (P<0.01). (3)There were three kinds of genotypes in MTHFR gene C677T polymorphisms : homozygous mutation (T/T) , heterozygous mutation (T/C) and wild type (C/C). (4) The frequencies of the three genotypes in case group were as follows : T/T , 34.12% ; T/C , 49.41% ; C/C , 16.47% , significantly different from those of control group (P<0.05); the frequency of T allele in cerebral infarction patients was 58.82% , significantly higher than that of normal individuals which was only 36.36% (P<0.01). (5) The same tendency of plasma they levels in three genotypes exists in the two groups , fast plasma theylevel in T/T genotype were higher than that in T/C and C/C genotype (P<0.05), there were no significant difference between the T/C and C/C genotype(P>0.05). (6)The serum folic acid concentration of patients was 5.73 2.52 ng/mL , lower than7.14 2.20ng/mL in normal group , and the serum vitamin 812 also has such difference between the two group (P<0.05). (7) The levels of fast plasma they had a negative non-longitudinal correlation with those of serum folic acid and vitamin B12 respectively (P<0.01). (8)The serum folic acid and vitamin B12 concentrations in T/T genotype were lower than that in T/C and C/C genotype within the case group and the normal group (P<0.01). (9)In case group , there were no significant difference of they within the patients who had different neural functional scores(P>0.05). (10)According to Spearman correlative analysis, Hhcy was an independent risk factors for cerebral infarction in young adults . Conclusions MTHFR gene mutation and the deficiency of serum folic acid and vitamin B12 were important genetic and nutrition factors which lead to cerebral infarction in young patients by elevating the they levels.