H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population.

This paper describes the genetic etiology of sporadic amyotrophic lateral sclerosis in a single population. Polymerase chain reaction-restriction fragment length polymorphism and DNA sample sequencing of 3 common HFE gene variants (C282Y and H63D and S65C) were performed on 10 randomly selected samples of H63D gene variant (124 patients with sporadic amyotrophic lateral sclerosis) and 10 wild types of H63D samples (210 controls). The C282Y and S65C gene variant were absent. There were 24 cases (7.18%) with H63D heterozygous variants, including 16 cases (13%) in the sporadic amyotrophic lateral sclerosis group and 8 cases (4%) in the healthy control group. The polymorphism frequency of the H63D gene variant in the sporadic amyotrophic lateral sclerosis group was significantly different than that in the control group (p < 0.05), and the difference at allele level, which is still more significant (p < 0.05). H63D gene variant could be a risk factor for sporadic amyotrophic lateral sclerosis in a single population. The results showed HFE gene variants play a role in the occurrence of sporadic amyotrophic lateral sclerosis, but its effect should be carefully estimated.

Characteristics of lipo-oligosaccharide loci of Campylobacter jejuni isolates associated with Guillain-Barré Syndrome from Hebei, China.

Ganglioside mimicry by C.jejuni lipo-oligosaccharides (LOS) could induce the production of autoantibodies against gangliosides and the development of Guillain-Barré syndrome (GBS). The LOS biosynthesis region exhibits significant variation with different strains. Using PCR amplifications of genes from published LOS loci and sequencing the LOS biosynthesis loci, the eight GBS-associated C. jejuni strains from HeBei could be classified into four classes. The expression of sialylated LOS structures (class A) or non-sialylated LOS structures(class F, H and P) in the C. jejuni LOS is considered to be two different factors for the induction of GBS.

[Preliminary analysis on the proteomic feature of Guillain-Barré syndrome-associated Campylobacter jejuni].

OBJECTIVE: To search the marker proteins of Guillain-Barré syndrome (GBS)-associated Campylobacter jejuni (C. jejuni) by comparing the protein maps of GBS-associated C. jejuni strains with that of non-GBS-associated C. jejuni strains. METHODS: The whole-cell proteins of eight GBS-associated and eight non-GBS-associated C. jejuni strains were separated using the two-dimensional gel electrophoresis respectively. The differentially expressed proteins between the two sets of strains were identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF-MS) after in-gel tryptic digestion. RESULTS: Twenty differentially expressed spots were found with seventeen identified ones using MSCOT database. These proteins were identified as wlaX protein and some other proteins involving in energy metabolism (malate dehydrogenase, triosephosphate isomerase, Ni/Fe-hydrogenase small chain, cysteine synthase, branched-chain amino acid aminotransferase), cell process (heat shock protein, iron-uptake ABC transport system periplasmic iron-binding protein, alkyl hydroperoxide reductase), cell envelope (flagellin, UDP-N-acetylenolpyruvoylglucosamine reductase) etc. CONCLUSION: WlaX proteins were probably associated with LPS biosynthesis or virulence of C. jejuni. WlaX protein and flagellin protein were the possible marker-proteins of GBS-associated C. jejuni strains.