Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. The mechanism that defines the loss of neurons in ALS is still not clearly understood, and there is no effective therapy to block its progression. Previous studies indicate that a disorder of iron homeostasis exists in ALS and based on this, the change of serum iron and ferritin and the association between iron metabolism and clinical features in Chinese Han patients with ALS was further investigated in the present study, in order to define its pathogenesis. Two cohorts were established: An ALS group consisting of 24 patients and a control group consisting of 38 healthy volunteers. Venous blood samples were collected for serum iron and ferritin analysis. The results indicated that the levels of serum iron were significantly decreased in patients with ALS (P<0.05), while there was no significant difference in serum ferritin between the ALS and control groups. However, the levels of serum ferritin were increased significantly in ALS patients with bulbar-onset (vs. limb-onset in females), dysphagia (vs. without dysphagia), longer disease duration (>12 months vs. ≤12 months in males) and lower ALS Functional Rating Scale-Revised score (<33 vs. ≥33; P<0.05). These results suggested that there was dysregulation of iron metabolism in Chinese Han patients with ALS and that serum ferritin may be a candidate biomarker of aggravation in these patients.

Amyotrophic lateral sclerosis (ALS) is one of the most common neurodegenerative disorders, but no definite mechanism has been defined on the loss of motor neurons in ALS and currently no therapy can block its progression. Many lines of evidence indicate that there is a disorder of iron homeostasis in ALS, and thus we sought to test the iron level in ALS patients by susceptibility weighted imaging (SWI). Sixteen ALS patients and 16 healthy persons underwent brain scans using SWI with a 3T Siemens MR scanner. The red nucleus, substantia nigra, globus pallidus, putamen, the head of caudate nucleus, and motor cortex were measured in the filtered phase images and analysed for their SWI phase values as relative marker for iron content. We found that phase shift values were significantly higher in the motor cortex of ALS patients by SWI, indicating increased iron level in this area. In contrast, we found that there were no differences of phase shift values between ALS patients and healthy controls in the other nuclei including the red nucleus, substantia nigra, globus pallidus, putamen and the head of the caudate nucleus. Furthermore, we found that there were no relationships between SWI signal and some clinical features of ALS. In conclusion, these results demonstrate that iron level increases in the motor cortex of ALS and that SWI is a reliable method to test iron in the brain.

quinone oxidoreductase 1 was significantly decreased in the NSC-34 cells transfected with the human SOD1-G93A gene. The present study indicated that human SOD1-G93A damaged the Nrf2/ARE signaling pathway in the ALS cell model and reduced the ability of cells to protect against oxidative injury.

These results suggest that a genetic variation in the insulin signaling pathway genes may affect the therapeutic response of TLE.

The C242T polymorphism of the CYBA gene that encodes p22phox, a component of nicotinamide adenine dinucleotide phosphate oxidase, has been found to modulate reactive oxygen species (ROS) production. Oxidative stress is thought to play a pivotal role in the pathophysiology of Alzheimer's disease (AD), which is manifested as increased availability of ROS because of an imbalanced redox state. Therefore, the aim of this study was to investigate potential associations of the p22phox C242T polymorphism with the risk of late-onset AD (LOAD) in a northern Han Chinese population. Patients with LOAD (n = 276) and 320 control subjects were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes. No significant differences were found between LOAD and p22phox C242T polymorphism, but a significant association was obtained in the genotype and allele distributions of p22phox C242T between LOAD patients and controls in apolipoprotein E (ApoE) ϵ4 carriers. These results suggested that p22phox C242T polymorphism has a possible role in changing the genetic susceptibility to LOAD in ApoE ϵ4 carriers of this northern Han Chinese population.