Human perforin gene variation is geographically distributed

ConclusionsThis study concludes with a novel hypothesis that nondeleterious mutation in PRF1, which decreases perforin expression and/or activity, may be an example of selective advantage in the context of environmental stressors prevalent near the equator. Our studies illustrate how perforin deficiency can be protective from injuries resulting in blood–brain barrier (BBB) disruption. Perforin gene variation in humans has been an understudied aspect of human immunology. In this analysis, we have determined the number of perforin variants in the human populations is more extensive than previously known and increases in human populations that live closer to the equator. We also forward a hypothesis regarding how perforin gene variation is important for protecting against immune‐mediated neuropathology in addition to pathogens.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody deficiency and identified five disease-associated variants in NFKB1 in five unrelated families. We detected two single base pair deletions and two single base pair insertions, causing severe protein truncations, and one missense mutation. Immunoblotting, lymphocyte stimulation, immunophenotyping, and ectopic expression assays demonstrated the functional relevance of NFKB1 mutations. Besides antibody deficiency, clinical manifestations included infections, autoimmune features, lymphoproliferation, lymphoma, Addison...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Abstract Polysaccharide is a key bioactive component of Schisandra chinensis and has significant pharmacological activities. The aim of this study was to evaluate the anti-diabetic effect of acidic polysaccharide from Schisandra chinensis (SCAP). Type 2 diabetic (T2D) rats were developed by giving a high-fat diet (HFD) combined with low-dose streptozotocin (STZ), and administered orally with SCAP (25, 50 mg/kg) for 8 weeks. Fasting blood glucose (FBG), fasting insulin (FINS), triglycerides (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), malon...
Source: Biological and Pharmaceutical Bulletin - Category: Drugs & Pharmacology Authors: Tags: Biol Pharm Bull Source Type: research
CONCLUSIONS In the A20 murine DLBCL cell line, high glucose upregulated the expression of HMGA2 to induce EMT and promote cell migration and invasion through the Wnt/ß-catenin signaling pathway. PMID: 31124542 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
CONCLUSIONS: - Metformin use is associated with a lower risk of NHL compared with non-metformin antidiabetics. PMID: 31129317 [PubMed - as supplied by publisher]
Source: Diabetes and Metabolism - Category: Endocrinology Authors: Tags: Diabetes Metab Source Type: research
PARP-14 Promotes Survival of Mammalian α but Not β Pancreatic Cells Following Cytokine Treatment Floriana D'Angeli1, Marina Scalia2, Matilde Cirnigliaro2, Cristina Satriano3, Vincenza Barresi1, Nicolò Musso1, Angela Trovato-Salinaro1, Davide Barbagallo2, Marco Ragusa2, Cinzia Di Pietro2, Michele Purrello2 and Vittoria Spina-Purrello1* 1Department of Biomedical and Biotechnological Sciences, Section of Medical Biochemistry, University of Catania, Catania, Italy 2Department of Biomedical and Biotechnological Sciences, Section of Biology and Genetics, University of Catania, Catania, Italy 3Department...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Publication date: Available online 30 April 2019Source: Clinical Lymphoma Myeloma and LeukemiaAuthor(s): Neil Dhopeshwarkar, Shahed Iqbal, Xuehong Wang, Maribel SalasAbstractBackgroundComorbidities in AML patients have been shown to increase with age. However, few studies have described the disease burden in elderly AML patients, a population generally under-represented in clinical trials. We aimed to characterize the comorbidities and complications in elderly AML patients.Materials and MethodsPatients (≥ 65 years) with a primary diagnosis of AML were identified from the SEER-Medicare Linked Database (2000-2013) and wer...
Source: Clinical Lymphoma Myeloma and Leukemia - Category: Cancer & Oncology Source Type: research
Conclusion and Future Perspectives This review illustrates our current knowledge of USP7, including its source and characterization, structure, binding partners and substrates in various biological processes. Besides, how USP7 regulates various aspects of a cell under both normal and pathological states are elaborated in detail. As the processes of ubiquitination and deubiquitination are extremely dynamic and context-specific, a series of studies have linked USP7 to different cancers. The biology, particularly the immune oncology mechanisms, reveal that USP7 inhibitors would be useful drugs, thus it is vital to develop hi...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
There is limited information on the comorbidities and complications in elderly AML patients. In a sample of 3,911 AML patients ( ≥ 65 years) identified from the SEER-Medicare database, AML patients had more comorbidities, higher rates of complications, and a higher risk of developing cardiovascular disease, type 2 diabetes mellitus, and stroke compared to matched non-cancer controls.
Source: Clinical Lymphoma, Myeloma and Leukemia - Category: Hematology Authors: Tags: Original Study Source Type: research
Conclusion and Perspectives The IL-6/JAK/STAT signaling cascade plays a dominant role in skeletal muscle pathophysiology. IL-6 autocrine, paracrine, and endocrine functions assign to its downstream effectors pivotal importance in skeletal muscle-wasting-associated diseases and other multiple system diseases where muscle acts in communication with other organs. Targeting the components of the JAK/STAT pathway recently emerged as a strategic approach for the treatment of inflammatory diseases and human cancer. This review highlights the opposite outcomes on muscle biology caused by the amount of local and systemic release ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
CONCLUSION: - Our study findings suggest a moderate increase in risk of NHL in type 1 and 2 DM patients. Future studies should investigate the effects of duration of DM and antidiabetes interventions on NHL risk. PMID: 31039401 [PubMed - as supplied by publisher]
Source: Diabetes and Metabolism - Category: Endocrinology Authors: Tags: Diabetes Metab Source Type: research
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