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https://www.readbyqxmd.com/read/29769545/short-term-temporal-memory-in-idiopathic-and-parkin-associated-parkinson-s-disease
#1
Bertrand Degos, Ilhame Ameqrane, Sophie Rivaud-Péchoux, Pierre Pouget, Marcus Missal
In a rapidly changing environment, we often know when to do something before we have to do it. This preparation in the temporal domain is based on a 'perception' of elapsed time and short-term memory of previous stimulation in a similar context. These functions could be perturbed in Parkinson's disease. Therefore, we investigated their role in eye movement preparation in sporadic Parkinson's disease and in a very infrequent variant affecting the Parkin gene. We used a simple oculomotor task where subjects had to orient to a visual target and movement latency was measured...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29760428/generation-and-characterisation-of-a-parkin-pacrg-knockout-mouse-line-and-a-pacrg-knockout-mouse-line
#2
Sarah E M Stephenson, Timothy D Aumann, Juliet M Taylor, Jessica R Riseley, Ruili Li, Jeffrey R Mann, Doris Tomas, Paul J Lockhart
Mutations in PARK2 (parkin) can result in Parkinson's disease (PD). Parkin shares a bidirectional promoter with parkin coregulated gene (PACRG) and the transcriptional start sites are separated by only ~200 bp. Bidirectionally regulated genes have been shown to function in common biological pathways. Mice lacking parkin have largely failed to recapitulate the dopaminergic neuronal loss and movement impairments seen in individuals with parkin-mediated PD. We aimed to investigate the function of PACRG and test the hypothesis that parkin and PACRG function in a common pathway by generating and characterizing two novel knockout mouse lines harbouring loss of both parkin and Pacrg or Pacrg alone...
May 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29755459/type-i-interferons-autophagy-and-host-metabolism-in-leprosy
#3
REVIEW
Thiago Gomes Toledo Pinto, Leonardo Ribeiro Batista-Silva, Rychelle Clayde Affonso Medeiros, Flávio Alves Lara, Milton Ozório Moraes
For those with leprosy, the extent of host infection by Mycobacterium leprae and the progression of the disease depend on the ability of mycobacteria to shape a safe environment for its replication during early interaction with host cells. Thus, variations in key genes such as those in pattern recognition receptors ( NOD2 and TLR1 ), autophagic flux ( PARK2, LRRK2 , and RIPK2 ), effector immune cytokines ( TNF and IL12 ), and environmental factors, such as nutrition, have been described as critical determinants for infection and disease progression...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29755319/ambra1-mediated-mitophagy-counteracts-oxidative-stress-and-apoptosis-induced-by-neurotoxicity-in-human-neuroblastoma-sh-sy5y-cells
#4
Anthea Di Rita, Pasquale D'Acunzo, Luca Simula, Silvia Campello, Flavie Strappazzon, Francesco Cecconi
Therapeutic strategies are needed to protect dopaminergic neurons in Parkinson's disease (PD) patients. Oxidative stress caused by dopamine may play an important role in PD pathogenesis. Selective autophagy of mitochondria (mitophagy), mainly regulated by PINK1 and PARKIN, plays an important role in the maintenance of cell homeostasis. Mutations in those genes cause accumulation of damaged mitochondria, leading to nigral degeneration and early-onset PD. AMBRA1ActA is a fusion protein specifically expressed at the mitochondria, and whose expression has been shown to induce a powerful mitophagy in mammalian cells...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29732454/chemically-treated-3d-printed-polymer-scaffolds-for-biomineral-formation
#5
Richard J Jackson, P Stephen Patrick, Kristopher Page, Michael J Powell, Mark F Lythgoe, Mark A Miodownik, Ivan P Parkin, Claire J Carmalt, Tammy L Kalber, Joseph C Bear
We present the synthesis of nylon-12 scaffolds by 3D printing and demonstrate their versatility as matrices for cell growth, differentiation, and biomineral formation. We demonstrate that the porous nature of the printed parts makes them ideal for the direct incorporation of preformed nanomaterials or material precursors, leading to nanocomposites with very different properties and environments for cell growth. Additives such as those derived from sources such as tetraethyl orthosilicate applied at a low temperature promote successful cell growth, due partly to the high surface area of the porous matrix...
April 30, 2018: ACS Omega
https://www.readbyqxmd.com/read/29719505/cellular-and-molecular-basis-of-neurodegeneration-in-parkinson-disease
#6
REVIEW
Xian-Si Zeng, Wen-Shuo Geng, Jin-Jing Jia, Lei Chen, Peng-Peng Zhang
It has been 200 years since Parkinson disease (PD) was described by Dr. Parkinson in 1817. The disease is the second most common neurodegenerative disease characterized by a progressive loss of dopaminergic neurons in the substantia nigra pars compacta. Although the pathogenesis of PD is still unknown, the research findings from scientists are conducive to understand the pathological mechanisms. It is well accepted that both genetic and environmental factors contribute to the onset of PD. In this review, we summarize the mutations of main seven genes (α-synuclein, LRRK2, PINK1, Parkin, DJ-1, VPS35 and GBA1) linked to PD, discuss the potential mechanisms for the loss of dopaminergic neurons (dopamine metabolism, mitochondrial dysfunction, endoplasmic reticulum stress, impaired autophagy, and deregulation of immunity) in PD, and expect the development direction for treatment of PD...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29707191/environmental-and-genetic-variables-influencing-mitochondrial-health-and-parkinson-s-disease-penetrance
#7
REVIEW
Alessandra Zanon, Peter P Pramstaller, Andrew A Hicks, Irene Pichler
There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD. The two key PD genes related to mitochondrial function are Parkin ( PARK2 ) and PINK1 ( PARK6 ), and also mutations in several other PD genes, including SNCA , LRRK2 , DJ1 , CHCHD2 , and POLG , have been shown to induce mitochondrial stress. Many mutations are clearly pathogenic in some patients while carriers of other mutations either do not develop the disease or show a delayed onset, a phenomenon known as reduced penetrance...
2018: Parkinson's Disease
https://www.readbyqxmd.com/read/29700116/comparative-analysis-of-parkinson-s-disease-associated-genes-reveals-altered-survival-and-bioenergetics-of-parkin-deficient-dopamine-neurons-in-mice
#8
Nicolas Giguere, Consiglia Pacelli, Caroline Saumure, Marie-Josee Bourque, Diana Matheoud, Daniel Levesque, Ruth S Slack, David S Park, Louis-Eric Trudeau
Many mutations in genes encoding proteins such as parkin, PTEN-induced putative kinase 1 (PINK1), protein deglycase DJ-1 (DJ-1 or PARK7), leucine-rich repeat kinase 2 (LRRK2), and α-synuclein have been linked to familial forms of Parkinson's disease (PD). The consequences of these mutations, such as altered mitochondrial function and pathological protein aggregation, are starting to be better understood. However, little is known about the mechanisms explaining why alterations in such diverse cellular mechanisms lead to the selective loss of dopamine (DA) neurons in the substantia nigra (SNc) in the brain of individuals with PD...
April 26, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29693004/neuronal-proteomic-analysis-of-the-ubiquitinated-substrates-of-the-disease-linked-e3-ligases-parkin-and-ube3a
#9
REVIEW
Aitor Martinez, Juanma Ramirez, Nerea Osinalde, Jesus M Arizmendi, Ugo Mayor
Both Parkin and UBE3A are E3 ubiquitin ligases whose mutations result in severe brain dysfunction. Several of their substrates have been identified using cell culture models in combination with proteasome inhibitors, but not in more physiological settings. We recently developed the bio Ub strategy to isolate ubiquitinated proteins in flies and have now identified by mass spectrometry analysis the neuronal proteins differentially ubiquitinated by those ligases. This is an example of how flies can be used to provide biological material in order to reveal steady state substrates of disease causing genes...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29689279/hepatitis-b-virus-x-protein-elevates-parkin-mediated-mitophagy-through-lon-peptidase-in-starvation
#10
Xiao-Yun Huang, Dan Li, Zhi-Xin Chen, Yue-Hong Huang, Wen-Yu Gao, Bi-Yun Zheng, Xiao-Zhong Wang
Hepatocellular Carcinoma (HCC) is the fifth most prevalent cancer worldwide. Specially, Hepatitis B viurs X protein (HBx) is a leading factor in the progression of Hepatitis B viurs-related HCC. Nutrient-deprived tumor microenvironment also contributes to tumor development. However, the role of HBx in nutrient-deprived HCC has received little investigation. Here, we show that HBx elevates PINK1-Parkin mediating mitophagy in starvation. HBx not only increases the PINK1/Parkin gene expression but also accelerates Parkin recruitment to partial mitochondria...
April 21, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29682760/protective-role-of-parkin-in-skeletal-muscle-contractile-and-mitochondrial-function
#11
Gilles Gouspillou, Richard Godin, Jérome Piquereau, Martin Picard, Mahroo Mofarrahi, Jasmin Mathew, Fennigje M Purves-Smith, Nicolas Sgarioto, Russell T Hepple, Yan Burelle, Sabah Na Hussain
KEY POINTS SUMMARY: Parkin, an E3 ubiquitin ligase encoded by the Park2 gene, has been implicated in the regulation of mitophagy, a quality control process whereby defective mitochondria are degraded. The exact physiological significance of Parkin in regulating mitochondrial function and contractility in skeletal muscle remains largely unexplored. Using Park2-/- mice, we show that Parkin ablation causes a decrease in muscle specific force, a severe decrease in mitochondrial respiration, mitochondrial uncoupling and an increased susceptibility to opening of the permeability transition pore...
April 22, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29645350/degradation-of-altered-mitochondria-by-autophagy-is-impaired-in-lafora-disease
#12
Marcos Lahuerta, Carmen Aguado, Pablo Sánchez-Martín, Pascual Sanz, Erwin Knecht
Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. LD is characterized by accumulation of a poorly-branched form of glycogen in the cytoplasm of neurons and other cells. We previously reported dysfunctional mitochondria in different LD models. Now, using mitochondrial uncouplers and respiratory chain inhibitors, we have investigated with human fibroblasts a possible alteration in the selective degradation of damaged mitochondria (mitophagy) in LD...
April 12, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29644727/genotype-phenotype-relations-for-the-parkinson-s-disease-genes-parkin-pink1-dj1-mdsgene-systematic-review
#13
REVIEW
Meike Kasten, Corinna Hartmann, Jennie Hampf, Susen Schaake, Ana Westenberger, Eva-Juliane Vollstedt, Alexander Balck, Aloysius Domingo, Franca Vulinovic, Marija Dulovic, Ingo Zorn, Harutyun Madoev, Hanna Zehnle, Christina M Lembeck, Leopold Schawe, Jennifer Reginold, Jana Huang, Inke R König, Lars Bertram, Connie Marras, Katja Lohmann, Christina M Lill, Christine Klein
This first comprehensive MDSGene review is devoted to the 3 autosomal recessive Parkinson's disease forms: PARK-Parkin, PARK-PINK1, and PARK-DJ1. It followed MDSGene's standardized data extraction protocol and screened a total of 3652 citations and is based on fully curated phenotypic and genotypic data on >1100 patients with recessively inherited PD because of 221 different disease-causing mutations in Parkin, PINK1, or DJ1. All these data are also available in an easily searchable online database (www...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29642727/lps-challenge-increased-intestinal-permeability-disrupted-mitochondrial-function-and-triggered-mitophagy-of-piglets
#14
Shuting Cao, Qianhui Zhang, ChunChun Wang, Huan Wu, Lefei Jiao, Qihua Hong, Caihong Hu
Here we investigated the influence of LPS-induced gut injury on antioxidant homeostasis, mitochondrial (mt) function and the level of mitophagy in piglets. The results showed that LPS-induced intestinal injury decreased the transepithelial electrical resistance, increased the paracellular permeability of F1TC dextran 4 kDa, and decreased the expression of claudin-1, occludin and zonula occludens-1 in the jejunum compared with the control group. LPS decreased the activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), and increased the content of malondialdehyde in the jejunum...
January 1, 2018: Innate Immunity
https://www.readbyqxmd.com/read/29626647/multiple-pathways-for-mitophagy-a-neurodegenerative-conundrum-for-parkinson-s-disease
#15
REVIEW
Charleen T Chu
It has been nearly a decade since the first landmark studies implicating familial recessive Parkinson's disease genes in the regulation of selective mitochondrial autophagy. The PTEN-induced kinase 1 (PINK1) and the E3 ubiquitin ligase Parkin (encoded by the PARK2 gene) act together to mark depolarized mitochondria for degradation. There is now an extensive body of literature detailing key mediators and steps in this pathway, based mostly on work in transformed cell lines. However, the degree to which PINK1-triggered mitophagy contributes to mitochondrial quality control in the mammalian brain, and the extent to which its disruption contributes to Parkinson's disease pathogenesis remain uncertain...
April 4, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29617867/weaning-disrupts-intestinal-antioxidant-status-impairs-intestinal-barrier-and-mitochondrial-function-and-triggers-mitophagy-in-piglets
#16
S T Cao, C C Wang, H Wu, Q H Zhang, L F Jiao, C H Hu
In the present study, we investigated the influence of weaning on antioxidant status, intestinal integrity, mitochondrial function, and the mitophagy level in piglets (weaned at 21 d) during the 1 wk after weaning. The redox status was measured by antioxidant enzymes activities, related genes expression, and malondialdehyde (MDA) content in jejunum. The intestinal barrier function was assessed by the Ussing chamber and expression of tight junction proteins in the jejunum. The function of intestine mitochondria was measured by mitochondrial DNA (mtDNA) content and activities of mitochondria oxidative phosphorylation complexes...
April 3, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29604498/oxidative-stress-and-mitochondrial-dysfunction-mediated-cd-induced-hepatic-lipid-accumulation-in-zebrafish-danio-rerio
#17
Ya-Xiong Pan, Zhi Luo, Mei-Qing Zhuo, Chuan-Chuan Wei, Guang-Hui Chen, Yu-Feng Song
The present study was performed to determine the effect of waterborne CdCl2 exposure influencing lipid deposition and metabolism, oxidative stress and mitochondrial dysfunction, and explore the underlying molecular mechanism of cadmium (Cd)-induced disorder of hepatic lipid metabolism in fish. To this end, adult zebrafish were exposed to three waterborne CdCl2 concentrations (0(control), 5 and 25 μg Cd/l, respectively) for 30 days. Lipid accumulation, the activities of enzymes related to lipid metabolism and oxidative stress, as well as the expression level of genes involved in lipid metabolism and mitophagy were determined in the liver of zebrafish...
March 17, 2018: Aquatic Toxicology
https://www.readbyqxmd.com/read/29577677/phase-determination-using-chromosomal-microarray-and-fluorescence-in-situ-hybridization-in-a-patient-with-early-onset-parkinson-disease-and-two-deletions-in-prkn
#18
Eli S Williams, Matthew J Barrett, Radhika Dhamija, Lisa Toran, Chelsea Chambers, Mani S Mahadevan, Wendy L Golden
BACKGROUND: Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD), with biallelic mutations, resulting in a clinical phenotype. However, normal variation is also common in PRKN, particularly in the form of copy number variation (CNV), challenging interpretation of genetic testing results. Here we report a case of a 29-year-old male with EOPD and two deletions in PRKN detected by chromosomal microarray (CMA). METHODS: The proband was clinically examined by a neurologist for postural instability with frequent falls, bradykinesia, gait freezing with festination, and hypophonia...
March 25, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29562342/diquat-induced-oxidative-stress-increases-intestinal-permeability-impairs-mitochondrial-function-and-triggers-mitophagy-in-piglets
#19
Shuting Cao, Huan Wu, ChunChun Wang, Qianhui Zhang, Lefei Jiao, Fanghui Lin, Caihong Hu
In the present study, we investigated the influence of diquat-induced oxidative stress on intestinal barrier, mitochondrial function and the level of mitophagy in piglets. Twelve male Duroc×Landrace×Yorkshire 35-d-old pigs (weaned at 21d of age), with an average body of 9.6 kg, were allotted to two treatments of six piglets each including the challenged group and the control group. The challenged pigs were injected with 100 mg/kg bodyweight diquat and control pigs injected with 0.9% (w/v) NaCl solution. The results showed that diquat injection decreased average daily feed intake and average daily gain...
March 17, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29561660/loss-of-parkin-impairs-mitochondrial-function-and-leads-to-muscle-atrophy
#20
Nesibe Peker, Vinay Donipadi, Mridula Sharma, Craig McFarlane, Ravi Kambadur
Parkinson's Disease is a neurodegenerative disease characterized by tremors, muscle stiffness and muscle weakness. Molecular genetic analysis confirmed that mutations in PARKIN and PINK1 genes, which play major roles in mitochondrial quality control and mitophagy, are frequently associated with Parkinson's Disease. PARKIN is an E3 ubiquitin ligase that translocates to mitochondria during loss of mitochondrial membrane potential to increase mitophagy. Although muscle dysfunction is noted in Parkinson's Disease, little is known about the involvement of PARKIN in the muscle phenotype of Parkinson's Disease...
March 21, 2018: American Journal of Physiology. Cell Physiology
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