Atherosclerosis is a multifactorial chronic-inflammatory disease related to endothelial aggression to the intima layer of medium and large caliber arteries. Hyperlipidemia and atherosclerosis cause eNOS to lose its function, producing superoxide and leading to endothelial dysfunction. The nitric oxide derived from eNOS is antiatherogenic. Single nucleotide polymorphisms in the promoter region reduce its activity and predispose individuals to cardiovascular disease. We analyzed the T786C polymorphism of eNOS in atherosclerotic patients under statin treatment, to determine the clinical importance of this type of genetic variation. The study of this polymorphism in atherosclerotic patients with stents could help predict the probability of ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 19 (2): gmr18539 A.M. Barbosa et al. 2restenosis. We collected 79 peripheral blood samples from patients diagnosed with atherosclerosis undergoing statin treatment. These included 35 stent patients and 44 patients without stents. The TC genotype was prevalent in stent patients who smoke but there was no significant relation between the T786C polymorphism and restenosis.Based on an in silico approach through molecular modeling and molecular docking, we found that statins stabilize the eNOS protein.Seven amino acid residues in the eNOS binding pocket interact with the statin molecule; this family of drugs acts by stabilizing the eNOS protein.Thus, the use of such drugs may help reduce the risk of restenosis.

Sickle cell anemia is one of the most common genetic diseases in Brazil. This disease has an autosomal recessive inheritance pattern with a point mutation on chromosome 11, which is the substitution of an adenine by thymine. This mutation leads to the exchange of a glutamic acid for a valine at residue 6 of the beta globin chain, resulting in an abnormal form of hemoglobin, the so-called hemoglobin S (Hb S). The polymerization of Hb S produces reactive oxygen species, oxidizing agents that promote the oxidation of macromolecules, such as lipids, proteins and DNA. GSTs are enzymes that participate in the conjugation reactions of glutathione to a variety of electrolytic compounds that are potentially toxic and carcinogenic. The We analyzed the GSTT1 and GSTM1 gene polymorphisms in a patient with sickle cell anemia in order establish a more efficient clinical approach to treat the patient. The patient under study was 11 years old and sickle cell anemia was confirmed by the Guthrie test. Polymorphism identification was performed by PCR. The genotype identified in the patient was null for GSTT1 and present for GSTM1. In addition, the patient has a recurrent need for blood transfusion.