Relationship between C677T Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy
Abstract: To observe the
relationship between methylenetetrahydrofolate reductase (MTHFR) C677T gene
polymorphism and homocysteine levels in cerebral palsy (CP) children.
Methods: This cross-sectional study was conducted in several hospitals,
school for children with special needs, and rehabilitation centers in Bandung
from March to November 2014, on children with CP aged 4–14 years who met the
inclusion criteria. Genotyping was performed using polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) and direct sequencing.
Homocysteine serum level was measured using chemiluminescent microparticle
immunoassay (CMIA) method. Statistical analysis was conducted using t test.
Results: In this study, 150 CP children had MTHFR C677T gene polymorphism
with a frequency of 18%, consisting of TT homozygotes (4%), CT heterozygotes
(14%), and T allele (11%. The mean serum level of homocysteine in CP with C677T
MTHFR gene polymorphism was 8.22 (±1.89) µmol/L, higher than those without
polymorphism (p=0.046).
Conclusions: A relationship between MTHFR C677T gene polymorphism and
homocysteine level in children with cerebral palsy is found in this study.
Author: Uni Gamayani, M. Hasan
Machfoed, Ponpon Idjradinata, Tri Hanggono Achmad
Journal Code: jpkedokterangg160078