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Drosophila human disease

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https://www.readbyqxmd.com/read/29769701/a-drosophila-model-of-essential-tremor
#1
Philip Smith, Ronald Arias, Shilpa Sonti, Zagaa Odgerel, Ismael Santa-Maria, Brian D McCabe, Krasimira Tsaneva-Atanasova, Elan D Louis, James J L Hodge, Lorraine N Clark
Essential Tremor (ET) is one of the most common neurological diseases, with an estimated 7 million affected individuals in the US; the pathophysiology of the disorder is poorly understood. Recently, we identified a mutation (KCNS2 (Kv9.2), c.1137 T > A, p.(D379E) in an electrically silent voltage-gated K+ channel α-subunit, Kv9.2, in a family with ET, that modulates the activity of Kv2 channels. We have produced transgenic Drosophila lines that express either the human wild type Kv9.2 (hKv9.2) or the ET causing mutant Kv9...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#2
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29763934/inactivation-of-usp14-perturbs-ubiquitin-homeostasis-and-delays-the-cell-cycle-in-mouse-embryonic-fibroblasts-and-in-fruit-fly-drosophila
#3
Jung Hoon Lee, Seoyoung Park, Yejin Yun, Won Hoon Choi, Min-Ji Kang, Min Jae Lee
BACKGROUND/AIMS: The 26S proteasome is the key proteolytic complex for recognition and degradation of polyubiquitinated target substrates in eukaryotes. Among numerous proteasome-associated proteins, a deubiquitinating enzyme (DUB) USP14 has been identified as an endogenous inhibitor of the proteasome. Here, we explored the complex regulatory functions of USP14 that involve ubiquitin (Ub) homeostasis and substrate degradation in flies and mammals. METHODS: USP14-null primary and immortalized mouse embryonic fibroblasts (MEFs) and USP14 knocked-down Drosophila were analyzed in this study...
May 9, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29760073/regulation-of-myeloid-cell-phagocytosis-by-lrrk2-via-wave2-complex-stabilization-is-altered-in-parkinson-s-disease
#4
Kwang Soo Kim, Paul C Marcogliese, Jungwoo Yang, Steve M Callaghan, Virginia Resende, Elizabeth Abdel-Messih, Connie Marras, Naomi P Visanji, Jana Huang, Michael G Schlossmacher, Laura Trinkle-Mulcahy, Ruth S Slack, Anthony E Lang, David S Park
Leucine-rich repeat kinase 2 ( LRRK2 ) has been implicated in both familial and sporadic Parkinson's disease (PD), yet its pathogenic role remains unclear. A previous screen in Drosophila identified Scar/WAVE (Wiskott-Aldrich syndrome protein-family verproline) proteins as potential genetic interactors of LRRK2 Here, we provide evidence that LRRK2 modulates the phagocytic response of myeloid cells via specific modulation of the actin-cytoskeletal regulator, WAVE2. We demonstrate that macrophages and microglia from LRRK2-G2019S PD patients and mice display a WAVE2-mediated increase in phagocytic response, respectively...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29752901/drosophila-models-of-amyotrophic-lateral-sclerosis-with-defects-in-rna-metabolism
#5
Ke Zhang, Alyssa N Coyne, Thomas E Lloyd
The fruit fly Drosophila Melanogaster has been widely used to study neurodegenerative diseases. The conservation of nervous system biology coupled with the rapid life cycle and powerful genetic tools in the fly have enabled the identification of novel therapeutic targets that have been validated in vertebrate model systems and human patients. A recent example is in the study of the devastating motor neuron degenerative disease amyotrophic lateral sclerosis (ALS). Mutations in genes that regulate RNA metabolism are a major cause of inherited ALS, and functional analysis of these genes in the fly nervous system has shed light on how mutations cause disease...
May 9, 2018: Brain Research
https://www.readbyqxmd.com/read/29745898/somatic-clones-heterozygous-for-recessive-disease-alleles-of-bmpr1a-exhibit-unexpected-phenotypes-in-drosophila
#6
Takuya Akiyama, Sırma D User, Matthew C Gibson
The majority of mutations studied in animal models are designated as recessive based on the absence of visible phenotypes in germline heterozygotes. Accordingly, genetic studies primarily rely on homozygous loss-of-function to determine gene requirements, and a conceptually-related 'two-hit model' remains the central paradigm in cancer genetics. Here we investigate pathogenesis due to somatic mutation in epithelial tissues, a process that predominantly generates heterozygous cell clones. To study somatic mutation in Drosophila , we generated inducible alleles that mimic human Juvenile polyposis-associated BMPR1A mutations...
May 10, 2018: ELife
https://www.readbyqxmd.com/read/29745345/protective-effect-of-kaempferol-on-the-transgenic-drosophila-model-of-alzheimer-s-disease
#7
Yasir Hasan Siddique, Tanveer Beg, Smita Jyoti, Falaq Naz, X Rahul, Fahad Ali, Syed Kashif Ali, Ahmed Mohamed Reyad
BACKGROUND: Alzheimer's disease (AD) is characterized by the accumulation and deposition of β-amyloid peptides leading to a progressive neuronal damage and cell loss. Besides several hypotheses for explaining the neurodegenerative mechanisms, oxidative stress has been considered to be one of them. Till date, there is no cure for AD, but the pathogenesis of the disease could be delayed by the use of natural antioxidants. In this context, we decided to study the effect of kaempferol against the transgenic Drosophila expressing human Aβ-42...
May 8, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29739804/etiology-and-treatment-of-adrenoleukodystrophy-new-insights-from-drosophila
#8
Hannah B Gordon, Lourdes Valdez, Anthea Letsou
Adrenoleukodystrophy (ALD) is a fatal progressive neurodegenerative disorder affecting brain white matter. The most common form of ALD is X-linked (X-ALD) and results from mutation of the ABCD1 -encoded very long chain fatty acid (VLCFA) transporter. X-ALD is clinically heterogeneous, with the cerebral form being the most severe. Diagnosed in boys usually between the ages of 4 and 8, cerebral X-ALD symptoms progress rapidly (in as little as two years) through declines in cognition, learning, and behavior, to paralysis and ultimately to a vegetative state and death...
May 8, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29730580/toll-like-receptors-in-immunity-and-inflammatory-diseases-past-present-and-future
#9
REVIEW
Kumar Vijay
The immune system is a very diverse system of the host that evolved during evolution to cope with various pathogens present in the vicinity of environmental surroundings inhabited by multicellular organisms ranging from achordates to chordates (including humans). For example, cells of immune system express various pattern recognition receptors (PRRs) that detect danger via recognizing specific pathogen-associated molecular patterns (PAMPs) and mount a specific immune response. Toll-like receptors (TLRs) are one of these PRRs expressed by various immune cells...
May 3, 2018: International Immunopharmacology
https://www.readbyqxmd.com/read/29729808/insights-into-c9orf72-related-als-ftd-from-drosophila-and-ipsc-models
#10
REVIEW
Yeliz Yuva-Aydemir, Sandra Almeida, Fen-Biao Gao
GGGGCC (G4 C2 ) repeat expansion in C9ORF72 is the most common genetic cause of ALS and FTD. An important issue is how repeat RNAs and their translation products, various dipeptide repeat (DPR) proteins, cause neurodegeneration. Drosophila has been widely used to model G4 C2 repeat RNA and DPR protein toxicity. Overexpression of disease molecules in flies has revealed important molecular insights. These have been validated and further explored in human neurons differentiated from induced pluripotent stem cells (iPSCs), a disease-relevant model in which expanded G4 C2 repeats are expressed in their native molecular context...
May 2, 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29727694/a-high-sugar-diet-affects-cellular-and-humoral-immune-responses-in-drosophila
#11
Shichao Yu, Gaoqun Zhang, Li Hua Jin
A high-sugar diet (HSD) induces Type 2 diabetes (T2D) and obesity, which severely threaten human health. The Drosophila T2D model has been constructed to study the mechanisms of insulin resistance, diet-induced cardiovascular diseases and other conditions. Innate immunity is the first line of defense against invading pathogens and parasites. However, few studies have focused on the relationship between a HSD and the innate immune response in Drosophila. In this study, we fed flies a high-sucrose diet and observed defects in the phagocytosis of latex beads and B...
May 1, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29721509/anthocyanins-function-as-anti-inflammatory-agents-in-a-drosophila-model-for-adipose-tissue-macrophage-infiltration
#12
Alice Valenza, Carola Bonfanti, Maria Enrica Pasini, Paola Bellosta
Epidemiological and preclinical studies have demonstrated that bioactive foods like flavonoids, polyphenolic compounds derived from fruits and vegetables, exert a protective action against obesity, cardiovascular disorders, and Adipocyte Tissue Macrophage infiltration (ATM). All these pathologies are characterized by increase in reactive oxygen species (ROS) and in proinflammatory cytokines that have been shown to favor the migration of immune cells, particularly of macrophages, in metabolically active organs like the liver and adipose tissue, that in Drosophila are constituted by a unique organ: the fat body...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29716983/phylogeny-of-the-genus-drosophila
#13
Patrick M O'Grady, Rob DeSalle
Understanding phylogenetic relationships among taxa is key to designing and implementing comparative analyses. The genus Drosophila , which contains over 1600 species, is one of the most important model systems in the biological sciences. For over a century, one species in this group, Drosophila melanogaster , has been key to studies of animal development and genetics, genome organization and evolution, and human disease. As whole-genome sequencing becomes more cost-effective, there is increasing interest in other members of this morphologically, ecologically, and behaviorally diverse genus...
May 2018: Genetics
https://www.readbyqxmd.com/read/29713264/modeling-fragile-x-syndrome-in-drosophila
#14
REVIEW
Małgorzata Drozd, Barbara Bardoni, Maria Capovilla
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 ( FMR1 ) encoding the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA metabolism and modulating the expression level of many targets. Most cases of FXS are caused by silencing of FMR1 due to CGG expansions in the 5'-UTR of the gene. Humans also carry the FXR1 and FXR2 paralogs of FMR1 while flies have only one FMR1 gene, here called dFMR1 , sharing the same level of sequence homology with all three human genes, but functionally most similar to FMR1 ...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29700671/flubendiamide-affects-visual-and-locomotory-activities-of-drosophila-melanogaster-for-three-successive-generations-p-f-1-and-f-2
#15
Saurabh Sarkar, Arnab Roy, Sumedha Roy
Flubendiamide is widely used in agricultural fields to exterminate a broad spectrum of pests (lepidopteran insects) by disrupting their muscle function. The main objective of this study was to find the effects of flubendiamide on a non-target organism, Drosophila melanogaster (dipteran insect). In the present study, different sub-lethal concentrations of Flubendiamide caused a significant (P < 0.05) decrease in acetylcholinesterase activity and increase in cytochrome P450 activity in adult D. melanogaster...
April 26, 2018: Invertebrate Neuroscience: IN
https://www.readbyqxmd.com/read/29660116/a-novel-histochemistry-assay-to-assess-and-quantify-focal-cytochrome-c-oxidase-deficiency
#16
Marie-Lune Simard, Arnaud Mourier, Laura C Greaves, Robert W Taylor, James B Stewart
Defects in the respiratory chain, interfering with energy production in the cell, are major underlying causes of mitochondrial diseases. In spite of this, the surprising variety of clinical symptoms, disparity between ages of onset as well as the involvement of mitochondrial impairment in ageing and age-related diseases, continues to challenge our understanding of the pathogenic processes. This complexity can be in part attributed to the unique metabolic needs of organs or of various cell types. In this view, it remains essential to investigate mitochondrial dysfunction at the cellular level...
April 16, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29657084/aggregated-a%C3%AE-1-42-is-selectively-toxic-for-neurons-whereas-glial-cells-produce-mature-fibrils-with-low-toxicity-in-drosophila
#17
Maria Jonson, Sofie Nyström, Alexander Sandberg, Marcus Carlback, Wojciech Michno, Jörg Hanrieder, Annika Starkenberg, K Peter R Nilsson, Stefan Thor, Per Hammarström
The basis for selective vulnerability of certain cell types for misfolded proteins (MPs) in neurodegenerative diseases is largely unknown. This knowledge is crucial for understanding disease progression in relation to MPs spreading in the CNS. We assessed this issue in Drosophila by cell-specific expression of human Aβ1-42 associated with Alzheimer's disease. Expression of Aβ1-42 in various neurons resulted in concentration-dependent severe neurodegenerative phenotypes, and intraneuronal ring-tangle-like aggregates with immature fibril properties when analyzed by aggregate-specific ligands...
April 2, 2018: Cell Chemical Biology
https://www.readbyqxmd.com/read/29653289/src-activation-decouples-cell-division-orientation-from-cell-geometry-in-mammalian-cells
#18
Xiaoyan Sun, Hongsheng Qi, Xiuzhen Zhang, Li Li, Jiaping Zhang, Qunli Zeng, George S Laszlo, Bo Wei, Tianhong Li, Jianxin Jiang, Alex Mogilner, Xiaobing Fu, Min Zhao
Orientation of cell division plane plays a crucial role in morphogenesis and regeneration. Misoriented cell division underlies many important diseases, such as cancer. Studies with Drosophila and C. elegance models show that Src, a proto-oncogene tyrosine-protein kinase, is a critical regulator of this aspect of mitosis. However, the role for Src in controlling cell division orientation in mammalian cells is not well understood. Using genetic and pharmacological approaches and two extracellular signals to orient cell division, we demonstrated a critical role for Src...
April 3, 2018: Biomaterials
https://www.readbyqxmd.com/read/29644870/a-novel-polyphenolic-prebiotic-and-probiotic-formulation-have-synergistic-effects-on-the-gut-microbiota-influencing-drosophila-melanogaster-physiology
#19
Susan Westfall, Nikita Lomis, Satya Prakash
The gut microbiota is a vast community of synergistic bacterial species providing health benefits to the host. Imbalances in the gut microbiota (dysbiosis) due to diet, antibiotic use, age and stress contribute to disease development including diabetes, obesity, colon cancer, inflammatory bowel disease, inflammaging and neurodegeneration. Fortunately, a probiotic regime with a diet rich in prebiotics may reverse dysbiosis promoting health and wellness in age. The current study designs, optimizes and tests a novel probiotic and synbiotic formulation consisting of three metabolically active probiotics Lactobacillus plantarum, Lactobacillus fermentum and Bifidobacteria infantis together with a novel polyphenol-rich prebiotic, Triphala...
April 12, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29617352/loss-of-iswi-function-in-drosophila-nuclear-bodies-drives-cytoplasmic-redistribution-of-drosophila-tdp-43
#20
Luca Lo Piccolo, Rosa Bonaccorso, Andrea Attardi, Lorenzo Li Greci, Giulia Romano, Martina Sollazzo, Giorgio Giurato, Antonia Maria Rita Ingrassia, Fabian Feiguin, Davide F V Corona, Maria Cristina Onorati
Over the past decade, evidence has identified a link between protein aggregation, RNA biology, and a subset of degenerative diseases. An important feature of these disorders is the cytoplasmic or nuclear aggregation of RNA-binding proteins (RBPs). Redistribution of RBPs, such as the human TAR DNA-binding 43 protein (TDP-43) from the nucleus to cytoplasmic inclusions is a pathological feature of several diseases. Indeed, sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration share as hallmarks ubiquitin-positive inclusions...
April 4, 2018: International Journal of Molecular Sciences
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