Guerra António, Rego Carla, Coelho Constança, Guimarães Nuno, Thiran Catarina, Aguiar Alvaro, Areias José Carlos, Bicho Manuel
Department of Paediatrics, Hospital S. João/Faculty of Medicine - University of Porto, Portugal.
Cardiol Young. 2007 Jun;17(3):295-300. doi: 10.1017/S1047951107000534. Epub 2007 Apr 20.
Nicotinamide adenine dinucleotide phosphate oxidase of the vascular cell membrane is an important source of reactive oxygen species. The aim of our study was to evaluate the possible influence of the p22phox C242T gene polymorphism on blood pressure and some markers of oxidative stress in children with tetralogy of Fallot.
After surgical repair in early life, we recruited 38 children, aged 11.7 plus or minus 3.2 years, including 185 healthy individuals as controls for the purposes of establishing frequencies of alleles and genotypes. From this latter group, we matched a sub-sample of 53 healthy caucasian children, aged 11.0 plus or minus 1.0 years, in order to compare enzymic activities.
The children with tetralogy of Fallot showed significantly lower values of low-molecular-weight protein tyrosine phosphatase, particularly in carriers of CC genotype for the p22phox gene, with values of 145.2 plus or minus 77.4 micromol/g Hb/h, compared to controls, at 344.4 plus or minus 100.4 micromol/g Hb/h (p less than 0.001). Methemoglobin reductase activity in the patients with tetralogy was also lower in those with the CC genotype, at 9.8 plus or minus 3.2 micromol/g Hb-1 min(-1) compared to 24.2 plus or minus 11.8 micromol/g Hb(-1) min(-1) as measured in the controls (p less than 0.01). Lower systolic (p less than 0.05) and diastolic (p less than 0.01) blood pressures were also observed in the patients with tetralogy of Fallot.
Patients with tetralogy of Fallot having the CC genotype may be at a higher state of oxidative stress than T allele carriers, a finding which could have prognostic implications. Long term follow-up of these patients, however, may be necessary in order to draw definite conclusions.
血管细胞膜的烟酰胺腺嘌呤二核苷酸磷酸氧化酶是活性氧的重要来源。我们研究的目的是评估p22phox C242T基因多态性对法洛四联症患儿血压及氧化应激一些标志物的可能影响。
在早期进行手术修复后，我们招募了38名年龄为11.7±3.2岁的儿童，包括185名健康个体作为对照，以确定等位基因和基因型的频率。从后一组中，我们匹配了53名年龄为11.0±1.0岁的健康白种儿童的子样本，以比较酶活性。
法洛四联症患儿低分子量蛋白酪氨酸磷酸酶的值显著较低，尤其是p22phox基因CC基因型携带者，其值为145.2±77.4微摩尔/克血红蛋白/小时，而对照组为344.4±100.4微摩尔/克血红蛋白/小时（p<0.001）。法洛四联症患者中CC基因型者的高铁血红蛋白还原酶活性也较低，为9.8±3.2微摩尔/克血红蛋白-1分钟-1，而对照组测量值为24.2±11.8微摩尔/克血红蛋白-1分钟-1（p<0.01）。法洛四联症患者还观察到较低的收缩压（p<0.05）和舒张压（p<0.01）。
具有CC基因型的法洛四联症患者可能比T等位基因携带者处于更高的氧化应激状态，这一发现可能具有预后意义。然而，可能需要对这些患者进行长期随访才能得出明确结论。
