Glutathione S-transferase M1 gene polymorphisms are associated with cardiac iron deposition in patients with beta-thalassemia major.
Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidant agents, glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1), and to determine their roles in 41 patients with beta-thal major. Our results showed that the GSTM1 and GSTT1 null genotypes were not associated with any incidence of endocrine dysfunction (including diabetes mellitus, hypogonadism, hypothyroidism, and growth hormone deficiency), liver function, or impaired left ventricular ejection fraction (LVEF). The GSTM1 null genotype, but not the GSTT1 null genotype, was associated with a decreased signal intensity ratio on cardiac magnetic resonance imaging (MRI). Our results suggest that genetic variations of the GSTM1 enzyme are associated with cardiac iron deposition in patients with beta-thal major.
Wu
Kang-Hsi
KH
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Chang
Jan-Gowth
JG
Ho
Yung-Jen
YJ
Wu
Shu-Fen
SF
Peng
Ching-Tien
CT
D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D015913:Chelation Therapy; D002648:Child; D003131:Combined Modality Therapy; D015897:Comorbidity; D000077543:Deferiprone; D003676:Deferoxamine / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000201:enzymology* / Q000209:etiology / Q000235:genetics; D008297:Male; D018384:Oxidative Stress; D011110:Polymorphism, Genetic; D011728:Pyridones / Q000627:therapeutic use; D013318:Stroke Volume; D065227:Transfusion Reaction; D017086:beta-Thalassemia / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology / Q000628:therapy
D000077543:Deferiprone; D003676:Deferoxamine; D005982:Glutathione Transferase; D007501:Iron; D007502:Iron Chelating Agents; D011728:Pyridones; C413545:glutathione S-transferase T1