13 research outputs found

    Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene

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    BACKGROUND: There are three pathways of L-threonine catabolism. The enzyme L-threonine aldolase (TA) has been shown to catalyse the conversion of L-threonine to yield glycine and acetaldehyde in bacteria, fungi and plants. Low levels of TA enzymatic activity have been found in vertebrates. It has been suggested that any detectable activity is due to serine hydroxymethyltransferase and that mammals lack a genuine threonine aldolase. RESULTS: The 7-exon murine L-threonine aldolase gene (GLY1) is located on chromosome 11, spanning 5.6 kb. The cDNA encodes a 400-residue protein. The protein has 81% similarity with the bacterium Thermotoga maritima TA. Almost all known functional residues are conserved between the two proteins including Lys242 that forms a Schiff-base with the cofactor, pyridoxal-5'-phosphate. The human TA gene is located at 17q25. It contains two single nucleotide deletions, in exons 4 and 7, which cause frame-shifts and a premature in-frame stop codon towards the carboxy-terminal. Expression of human TA mRNA was undetectable by RT-PCR. In mice, TA mRNA was found at low levels in a range of adult tissues, being highest in prostate, heart and liver. In contrast, serine/threonine dehydratase, another enzyme that catabolises L-threonine, is expressed very highly only in the liver. Serine dehydratase-like 1, also was most abundant in the liver. In whole mouse embryos TA mRNA expression was low prior to E-15 increasing more than four-fold by E-17. CONCLUSION: Mice, the western-clawed frog and the zebrafish have transcribed threonine aldolase/GLY1 genes, but the human homolog is a non-transcribed pseudogene. Serine dehydratase-like 1 is a putative L-threonine catabolising enzyme

    Screening of organ-specific autoantibodies in a large cohort of patients with autoimmune thyroid diseases.

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    Background Autoimmune diseases tend to cluster in the same individual or in families. Four types of Autoimmune Polyglandular Syndromes (APS) have been described based on the combination of endocrine and/or non-endocrine autoimmune diseases. In particular, type-3 APS is defined by the association of an autoimmune thyroid disease (ATD) and other autoimmune diseases and has a multifactorial etiology. The natural history of autoimmune diseases is characterized by three stages: potential, subclinical and clinical. Methods To determine the prevalence of organ-specific autoantibodies [anti-adrenal (ACA), anti-ovary (StCA), anti-pituitary (APA), anti-parietal cells (PCA), anti-transglutaminase (tTGAb), anti-mithocondrial (AMA) anti-glutamic acid decarboxylase (GADA), anti-nicotinic acetylcholine receptor (ARAb)] in patients with ATD and to define the stage of the disease in patients with positive autoantibodies. From January 2016 to November 2018, 1502 patients [1302 F/200 M; 52.7±14.7 (m±SD) years, range 18-86] with ATD [1285/1502 (85.6%) with chronic autoimmune thyroiditis and 217/1502 (14.4%) with Graves disease] were prospectively enrolled. Results The most common organ-specific autoantibodies were PCA (6.99%) and GADA (2.83%) while the prevalence of the remaining autoantibodies was ≤1%. All autoimmune diseases, but celiac disease, were predominantly at the potential stage. Sex, ATD type, smoking habit and coexistence of other autoimmune diseases correlated with the susceptibility to develop chronic atrophic gastritis or autoimmune diabetes mellitus. Conclusions The association between ATD and chronic atrophic gastritis was the most common manifestation of type-3 APS, mainly at the potential stage, allowing to set an appropriate follow-up for early detection and timely treatment of the disease

    Language and Emotion

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    The authors consider the emergence of emotions and their treatment in the human sciences and look specifically at positions taken by multilingual writers who relate emotions they have felt to the languages in which their emotions are expressed. They enquire into whether language exists in the absence of language communities and consider how authors have expressed their anchoring or lack of anchoring in one or more languages and what motivates them in their choice of a given language for emotional expression.info:eu-repo/semantics/publishe
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