Contribution of GSTM1, GSTT1, and MTHFR polymorphisms to end-stage renal disease of unknown etiology in Mexicans.

Oxidative stress is increased in chronic kidney disease, owing to an imbalance between the oxidative and antioxidant pathways as well as a state of persistent hyperhomocysteinemia. The enzymes glutathione S-transferases (GSTs) and methylenetetrahydrofolate reductase (MTHFR) are implicated in the regulation of these pathways. This study investigates the association between polymorphisms in the Glutathione S-transferase Mu 1 (GSTM1), glutathione S-transferase theta 1 (GSTT1), and MTHFR genes and end-stage renal disease (ESRD) of unknown etiology in patients in Mexico. A Case-control study included 110 ESRD patients and 125 healthy individuals. GSTM1 and GSTT1 genotypes were determined using the multiplex polymerase chain reaction (PCR). The MTHFR C677T polymorphism was studied using a PCR/restriction fragment length polymorphism method. In ESRD patients, GSTM1 and GSTT1 null genotype frequencies were 61% and 7% respectively. GSTM1 genotype frequencies differed significantly between groups, showing that homozygous deletion of the GSTM1 gene was associated with susceptibility to ESRD of unknown etiology (P = 0.007, odds ratios = 2.05, 95% confidence interval 1.21-3.45). The MTHFR C677T polymorphism genotype and allele distributions were similar in both groups (P > 0.05), and the CT genotype was the most common genotype in both groups (45.5% and 46.6%). Our findings suggest that the GSTM1 null polymorphism appears to be associated with the ESRD of unknown etiology in patients in Mexico.

[Neuromyelitis optica: a clinical update]. / Neuromielitis optica: actualizacion clinica.

INTRODUCTION: Neuromyelitis optica (NMO) or Devic's disease is an autoimmune, inflammatory and demyelinating central nervous system disorder that affects mainly to optic nerve and spinal cord. Recent advances have substantially permitted to expand the knowledge about this entity. AIM: To present a clinical update on the current understanding of the nature, progression, diagnosis and treatment of NMO. DEVELOPMENT: Due to its demyelinating nature and its recurrent behavior in most cases, NMO was first considered a form of multiple sclerosis (MS). However, recent findings have led to the conclusion that NMO is a distinct disorder, presenting important immunopathological, clinical, prognostic and therapeutic differences from MS. Fundamental in the under-standing of the disease was the recent discovery of antibodies directed against aquaporin-4 (anti-AQP4, also known as NMO-IgG), which are present in the majority of NMO cases clinically defined, and in a minority of patients with MS. Despite the knowledge on its immunopathogenesis and advances in diagnosis, the treatment of NMO is still challenging. CONCLUSION: NMO is a demyelinating disease different from MS. Current diagnostic criteria have been enriched with the recent description of the humoral disorder underlying NMO. However, current treatment options for NMO are far from being ideal.