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Background Several lines of evidence imply that brain-derived neurotrophic factor (BDNF) is involved in the pathophysiology of fibromyalgia (FM); in this regard, patients with FM have altered blood and cerebrospinal fluid levels of BDNF. In this study, we explored the association between BDNF gene polymorphisms and FM susceptibility and the severity of symptoms. Methods In total, 409 patients with FM and 423 healthy controls in 10 medical centers were enrolled from the Korean nationwide FM survey. The alleles and genotypes at 10 positions in the BDNF gene were genotyped. Results The allele and genotype frequencies of BDNF rs11030104 differed significantly between the patients with FM and the controls (P = 0.031). The GG genotype of rs11030104 had a protective effect against FM (P = 0.016), and the G allele of rs11030104 was negatively associated with the presence of FM compared with the A allele (P = 0.013). In comparison, although the allele and genotype frequencies of BDNF rs12273539 did not differ between the two groups, the TT genotype of BDNF rs12273539 was associated with susceptibility to FM (P = 0.038). Haplotype analyses implied that some BDNF haplotypes have a protective effect against FM. Finally, several genotypes and haplotypes of the BDNF gene contributed to specific symptoms of FM. Conclusions This study is the first to evaluate the associations between BDNF gene polymorphisms and FM. Our results imply that some BDNF single-nucleotide polymorphisms and haplotypes are associated with susceptibility to, and contribute to the symptoms of, FM.

The loss-of-function mutants of the Arabidopsis orthologue of the wheat LRK10 gene shows ABA-insensitive and drought stress-sensitive phenotypes, suggesting that LRK10L1.2 is positively involved in ABA signaling. A subset of receptor-like kinases (RLKs) superfamily proteins play a key role in sensing internal and external signals. A gene encoding Arabidopsis thaliana Leaf rust 10 disease-resistance locus receptor-like protein kinase 1 (AtLRK10L1), most closely related to wheat LRK10, expresses two different transcripts, LRK10L1.1 and LRK10L1.2, using alternative promoters. The T-DNA insertion mutant, lrk10l1-2, that specifically shuts down LRK10L1.2 transcription displayed an abscisic acid (ABA)-insensitive phenotype in seed germination and seedling growth. However, the lrk10l1.2 mutant exhibited reduced tolerance to drought stress, compared with wild type, which is accompanied by alteration of stomatal apertures. The transgenic plants overexpressing full-length LRK10L1.2, which localizes to the plasma membrane (PM) complemented the phenotypes of lrk10l1-2 mutant background, while those expressing LRK10L1.2 Nu1, which switched its localization to the endoplasmic reticulum (ER) by skipping of a mini-exon, showed even higher ABA insensitivity and drought sensitivity than its mutant background. Our results suggest that ABA signaling involves the PM-localized LRK10L1.2.

AtLRK10L1.2 produces a variety of alternatively spliced variants in the region a mini-exon and skipping of the mini-exon alters the subcellular localization of the protein. We have examined expression and alternative splicing in the gene encoding Arabidopsis LRK10-like 1 (AtLRK10L1) which is most closely related to wheat leaf rust 10 disease-resistance locus receptor-like protein kinase (LRK10). AtLRK10L1 produces two different transcripts, LRK10L1.1 and 1.2 through the use of two different promoters. We found no evidence of alternative splicing for the AtLRK10L1.1 transcript but identified numerous alternative splicing variants of AtLRK10L1.2 by sequencing of cloned cDNAs prepared from RNA isolated from whole cell, nucleolar and nucleoplasmic fractions. Many of these transcripts contained unspliced introns and accumulated differentially in the nucleolus and the nucleoplasm consistent with intron retention transcripts being retained in the nucleus (Gohring et al., Plant Cell 26:754–764, 2014). We examined the fate of different alternatively spliced transcripts by fusing variants to YFP and expressing them by agroinfiltration in Nicotiana benthamiana. AtLRK10L1 contains a 45 nt mini-exon which encodes part of a putative transmembrane domain. Full-length cDNA of LRK10L1.2 fused to YFP targeted the fusion protein to the plasma membrane while expression of transcripts where the mini-exon had been deleted, altered the localization of the fusion protein to the endoplasmic reticulum. Similarly, expression of full-length and mini-exon deleted versions of three other members of the LRK10 receptor-like kinase (RLK) gene family also showed the switch in localization. Thus, the mini-exons in Arabidopsis LRK10 genes are required for localization to the plasma membrane.

Internal carotid artery (ICA) agenesis is an infrequent vascular anomaly, less than 0.01% of the population. Here we report a case of internal carotid agenesis with a rare collateral pathway, via supraclinoid ICA anastomosis to the contralateral supraclinoid ICA.

The nucleolus is the nuclear organelle for ribosomal DNA transcription, rRNA processing, and ribosome synthesis. However, abundant recent findings also have shown that the nucleolus is the site where virtually all eukaryotic RNA polymerase-transcribed RNAs are processed and where other important cellular functions are regulated. Although the number of nucleoli per cell and the nucleolar ultrastructures within animal and plant nucleoli differ, most nucleolar functions for those two organisms appear to be conserved. This review not only presents molecular details already known from yeast and animal systems, but also discusses recently published results about nucleolar functioning in plants, a research area still in its infancy.

Cytomegalovirus (CMV) retinitis rarely occurs in patients with connective tissue disease. We present a rare case of CMV retinitis in a patient with dermatomyositis. A 38-year-old man was admitted due to blurred vision and floaters of right eye. He had been diagnosed with dermatomyositis and taken prednisolone and immunosuppressive agents for 10 months. He was diagnosed as having CMV retinitis based upon ophthalmologic examination, decreased CD4+T cell count, and positive IgM anti-CMV antibody. Intravenous ganciclovir was administrated with cessation of immunosuppressive agents for 40 days and the lesion did not progress. This is the first report of a CMV retinitis that developed in a patient with dermatomyositis.