Identification of an A4V SOD1 mutation in a Chinese patient with amyotrophic lateral sclerosis without the A4V founder effect common in North America

<p>We identified a missense alanine to valine mutation at codon 4 (A4V) in the Cu/Zn superoxide dismutase (SOD1) gene in a 51-year-old male of Chinese origin with familial amyotrophic lateral sclerosis (ALS). The patient displayed a typical A4V-related phenotype that included rapid progression and predominant lower motor neuron involvement. This patient is the first such carrier reported outside Caucasian ALS patients, despite the fact that A4V mutations account for up to 50% of all SOD1 mutations in North America. Further SNP analyses showed that the A4V patient of Chinese origin did not share the common founder effect observed in North America.</p

Alignment of human dynactin subunit 1 (isoform 1) amino acid sequences from different species.

<p>The p.R623W variant was conserved in mammals, p.A933V variant was conserved in vertebrata.</p

Novel missense mutations in <i>DCTN1</i> identified in sporadic ALS patients.

<p>(a), (b): Partial chromatograms of two novel mutations of <i>DCTN1</i>.</p

Novel mutations of <i>DCTN1</i> in Chinese patients with sporadic amyotrophic lateral sclerosis.

<p>Novel mutations of <i>DCTN1</i> in Chinese patients with sporadic amyotrophic lateral sclerosis.</p

Characteristics of participants: ALS patients and healthy controls.

<p>Characteristics of participants: ALS patients and healthy controls.</p

Abnormal cut-off scores and frequency of patients with cognitive impairments.

<p>Abnormal cut-off scores and frequency of patients with cognitive impairments.</p

Effects of Assimilable Organic Carbon and Free Chlorine on Bacterial Growth in Drinking Water

<div><p>Assimilable organic carbon (AOC) is one of the most important factors affecting the re-growth of microorganisms in drinking water. High AOC concentrations result in biological instability, but disinfection kills microbes to ensure the safety of drinking water. Free chlorine is an important oxidizing agent used during the disinfection process. Therefore, we explored the combined effects of AOC and free chlorine on bacterial growth in drinking water using flow cytometry (FCM). The initial AOC concentration was 168 μg.L^-1 in all water samples. Without free chlorine, the concentrations of intact bacteria increased but the level of AOC decreased. The addition of sodium hypochlorite caused an increase and fluctuation in AOC due to the oxidation of organic carbon. The concentrations of intact bacteria decreased from 1.1×10⁵ cells.mL^-1 to 2.6×10⁴ cells.mL^-1 at an initial free chlorine dose of 0.6 mg.L^-1 to 4.8×10⁴ cells.mL^-1 at an initial free chlorine dose of 0.3 mg.L^-1 due to free chlorine originating from sodium hypochlorite. Additionally, free chlorine might be more obviously affected AOC concentrations than microbial growth did. These results suggested that AOC and free chlorine might have combined effects on microbial growth. In this study, our results showed concentrations determined by FCM were higher than those by HPC, which indicated that some <i>E</i>. <i>coli</i> detected by FCM might not be detected using HPC in drinking water. The level of free chlorine might restrain the consumption of AOC by inhibiting the growth of <i>E</i>. <i>coli</i>; on the other hand, chlorination might increase the level of AOC, thereby increase the potential for microbial growth in the drinking water network.</p></div

Amendments in the Chinese version compared to the original English version.

<p>Amendments in the Chinese version compared to the original English version.</p

Performances in cognitive scores and ECAS time of ALS patients and healthy controls.

<p>Performances in cognitive scores and ECAS time of ALS patients and healthy controls.</p

The variation tendency of AOC concentration in 72h.

<p>All data points are average values for triplicate samples. Error bars indicate standard deviations. (CK means the initial free chlorine concentrations were 0 mg.L^-1. The line with circles means the initial free chlorine concentrations were 0.3 mg.L^-1 and the line with triangles means the initial free chlorine concentrations were 0.6 mg.L^-1).</p