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https://www.readbyqxmd.com/read/28511254/genetic-forms-of-parkinson-s-disease
#1
Christine Y Kim, Roy N Alcalay
One of the greatest advances in Parkinson's disease (PD) research in the past two decades has been a better understanding of PD genetics. Of the many candidate genes investigated, the best studied include LRRK2, SNCA, VPS35, Parkin, PINK1, and DJ1. The authors review the key clinical features of these monogenic forms, as well as for the prevalent risk factor gene, GBA, including the phenotype, clinical course, and treatment response. They also outline areas for future investigation: longitudinal studies of PD's clinical course, the identification of its premotor manifestations, and its specific mechanisms of pathogenicity...
April 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28444544/methylglyoxal-detoxification-by-a-dj-1-family-protein-provides-dual-abiotic-and-biotic-stress-tolerance-in-transgenic-plants
#2
Prasad Melvin, Kondalarao Bankapalli, Patrick D'Silva, P V Shivaprasad
Methylglyoxal (MG) is a key signaling molecule resulting from glycolysis and other metabolic pathways. During abiotic stress, MG levels accumulate to toxic levels in affected cells. However, MG is routinely detoxified through the action of DJ1/PARK7/Hsp31 proteins that are highly conserved across kingdoms and mutations in such genes are associated with neurodegenerative diseases. Here, we report for the first time that, similar to abiotic stresses, MG levels increase during biotic stresses in plants, likely contributing to enhanced susceptibility to a wide range of stresses...
April 25, 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28408307/mitochondrial-respiratory-chain-disorganization-in-parkinson-s-disease-relevant-pink1-and-dj1-mutants
#3
Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P Bolaños
Brain mitochondrial complex I (CI) damage is associated with the loss of the dopaminergic neurons of the Substantia Nigra in Parkinson's Disease (PD) patients. However, whether CI inhibition is associated with any alteration of the mitochondrial respiratory chain (MRC) organization in PD patients is unknown. To address this issue, here we analyzed the MRC by blue native gel electrophoresis (BNGE) followed by western blotting, in mitochondria purified from fibroblasts of patients harboring PD-relevant Pink1 mutations...
April 10, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28340952/lack-of-association-of-mortalin-hspa9-and-other-mitochondria-related-genes-with-risk-of-parkinson-s-and-alzheimer-s-diseases
#4
Sun Ju Chung, Mi-Jung Kim, Ho-Sung Ryu, Juyeon Kim, Young Jin Kim, Kiju Kim, Sooyeoun You, Seong Yoon Kim, Jae-Hong Lee
We investigated the role of mortalin (HSPA9) and its interaction with other mitochondria-related genes (parkin, PINK1, DJ1, and COQ2) as a risk factor for Parkinson's disease (PD) and Alzheimer's disease (AD) in 500 PD, 400 AD, and 500 control subjects. The HSPA9 variants identified by direct sequencing or its interaction with other genes assessed by genetic risk scores did not show a significant association with PD or AD risk. Our findings did not provide a strong evidence for the role of HAPA9 and its interaction with other mitochondria-related genes as a genetic risk factor for PD or AD...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28336262/increased-susceptibility-to-fundus-camera-delivered-light-induced-retinal-degeneration-in-mice-deficient-in-oxidative-stress-response-proteins
#5
Yi Ding, Bogale Aredo, Xin Zhong, Cynthia X Zhao, Rafael L Ufret-Vincenty
Oxidative stress is an important contributor to the pathogenesis of many retinal diseases including age-related macular degeneration and retinal dystrophies. Light-induced retinal degeneration (LIRD) can serve as a model in which to study the response of the retina to stress. Of note, many genetic mutant mice are in a C57BL/6 J background and are thus resistant to the usual LIRD models. We recently developed a new model of fundus camera-delivered light-induced retinal degeneration (FCD-LIRD) which is effective in strains of mice expressing the light-resistant variant of RPE65 (450Met), including C57BL/6 J...
March 20, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28147334/dj1-at-the-interface-between-neuro-degeneration-and-cancer
#6
EDITORIAL
Johannes Meiser, Alexei Vazquez, Karsten Hiller
No abstract text is available yet for this article.
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28124432/detection-of-genomic-rearrangements-from-targeted-resequencing-data-in-parkinson-s-disease-patients
#7
Nino Spataro, Ana Roca-Umbert, Laura Cervera-Carles, Mònica Vallès, Roger Anglada, Javier Pagonabarraga, Berta Pascual-Sedano, Antònia Campolongo, Jaime Kulisevsky, Ferran Casals, Jordi Clarimón, Elena Bosch
BACKGROUND: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. METHODS: Gene dose alterations were detected with the eXome-Hidden Markov Model (XHMM) software from depth of coverage in resequencing data available for 38 Mendelian and other risk PD loci in 394 individuals (249 cases and 145 controls) and subsequently validated by quantitative PCR...
January 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27872751/novel-gene-tmem230-linked-to-parkinson-s-disease
#8
EDITORIAL
Diana A Olszewska, Conor Fearon, Tim Lynch
Mutations in six genes are known to cause Parkinson's disease (PD) (autosomal dominant: alpha-synuclein, LRRK2, VPS35 and autosomal recessive: Parkin, PINK1 and DJ1) and number of other genes are implicated. In a recent article Deng and colleagues studied a large four generation American family of European descent and linked mutations in a novel gene, transmembrane-protein 230 gene (TMEM230) with lewy body confirmed PD. The authors demonstrated that pathogenic TMEM230 variants in primary mouse neurons affected movement of synaptic vesicles suggesting that TMEM230 may slow vesicular transport...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/27773573/a-caenorhabditis-elegans-model-elucidates-a-conserved-role-for-trpa1-nrf-signaling-in-reactive-%C3%AE-dicarbonyl-detoxification
#9
Jyotiska Chaudhuri, Neelanjan Bose, Jianke Gong, David Hall, Alexander Rifkind, Dipa Bhaumik, T Harshani Peiris, Manish Chamoli, Catherine H Le, Jianfeng Liu, Gordon J Lithgow, Arvind Ramanathan, X Z Shawn Xu, Pankaj Kapahi
Reactive α-dicarbonyls (α-DCs), like methylglyoxal (MGO), accumulate with age and have been implicated in aging and various age-associated pathologies, such as diabetic complications and neurodegenerative disorders like Alzheimer's and Parkinson's diseases. Evolutionarily conserved glyoxalases are responsible for α-DC detoxification; however, their core biochemical regulation has remained unclear. We have established a Caenorhabditis elegans model, based on an impaired glyoxalase (glod-4/GLO1), to broadly study α-DC-related stress...
November 21, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27592010/early-onset-parkinson-s-disease-due-to-dj1-mutations-an-indian-study
#10
Masoom M Abbas, Shyla T Govindappa, Sumedha Sudhaman, B K Thelma, Ramesh C Juyal, Madhuri Behari, Uday B Muthane
INTRODUCTION: Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. OBJECTIVES: We undertook a retrospective study to determine the prevalence of DJ1 mutation(s) in an Indian population and describe the clinical features and long term outcome of EOPD patients with these mutations...
April 24, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27496670/identification-of-a-novel-homozygous-mutation-arg459pro-in-synj1-gene-of-an-indian-family-with-autosomal-recessive-juvenile-parkinsonism
#11
Laxmi Kirola, Madhuri Behari, Chandan Shishir, B K Thelma
BACKGROUND: A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in other populations still remains unidentified. METHODS: An ARJP family with two affected siblings characterized by frequent tremor with bradykinesia and rigidity was recruited in this study...
October 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27455133/mutation-analysis-of-the-parkin-pink1-dj1-and-snca-genes-in-turkish-early-onset-parkinson-s-patients-and-genotype-phenotype-correlations
#12
Sevda Erer, Unal Egeli, Mehmet Zarifoglu, Gulcin Tezcan, Gulsah Cecener, Berrin Tunca, Secil Ak, Elif Demirdogen, Gulay Kenangil, Hakan Kaleagası, Okan Dogu, Esen Saka, Bulent Elibol
OBJECTIVE: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. METHODS: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients...
September 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27354603/cancer-stem-cell-properties-as-factors-predictive-of-chemoresistance-in-neoadjuvantly-treated-patients-with-ovarian-cancer
#13
Marjo Pylväs-Eerola, Annikki Liakka, Ulla Puistola, Jussi Koivunen, Peeter Karihtala
BACKGROUND/AIM: The nuclear factor erytheroid 2-related factor 2-kelch-like ECH-associated protein (NRF2-KEAP1) system and stem cell-like cancer cells are associated with platinum resistance in ovarian cancer. Our objective was to investigate the possible association between platinum resistance, cellular redox-state regulation and stem cell properties in ovarian cancer. PATIENTS AND METHODS: Thirty-eight patients with epithelial ovarian cancer were included. All patients had undergone primary diagnostic laparoscopy, platinum-based neoadjuvant chemotherapy, and debulking surgery...
July 2016: Anticancer Research
https://www.readbyqxmd.com/read/26972524/a-novel-homozygous-dj1-mutation-causes-parkinsonism-and-als-in-a-turkish-family
#14
Hasmet A Hanagasi, Anamika Giri, Ece Kartal, Gamze Guven, Başar Bilgiç, Ann-Kathrin Hauser, Murat Emre, Peter Heutink, Nazlı Basak, Thomas Gasser, Javier Simón-Sánchez, Ebba Lohmann
OBJECTIVE: DJ1 mutations (PARK7) are among the monogenic causes of early-onset autosomal recessive parkinsonism. Here, we report clinical and genetic findings in a family with Turkish origin carrying a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and signs of amyotrophic lateral sclerosis (ALS). METHODS: The family consisted of 12 members including 10 offsprings of whom three were affected. All family members underwent detailed clinical examination...
August 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/26864383/discovery-of-a-frameshift-mutation-in-podocalyxin-like-podxl-gene-coding-for-a-neural-adhesion-molecule-as-causal-for-autosomal-recessive-juvenile-parkinsonism
#15
Sumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, B K Thelma
BACKGROUND: Mutations in known genes for inherited forms of Parkinson's disease (PD) account for <30% of familial PD (FPD) implying that more causal gene(s) remain to be identified. We attempted to discover the putative causal variant in an Indian family with autosomal-recessive juvenile Parkinsonism (ARJP), tested negative for mutations in PARK2, PINK1 and DJ1. METHODS: Whole exomes of two affected siblings were sequenced. Variants prioritised were screened for segregation with disease in the family by targeted sequencing...
July 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26780326/setd6-is-a-negative-regulator-of-oxidative-stress-response
#16
Ayelet Chen, Michal Feldman, Zlata Vershinin, Dan Levy
The protein methyltransferase SETD6 is a key regulator of proliferation and inflammatory processes. However, the role of SETD6 in the regulation of additional cell signaling pathways has not been well studied. Here we show that SETD6 is a negative regulator of the oxidative stress response. Depletion of SETD6 from cells results in elevated Nrf2 levels and a significant increase in Nrf2 antioxidant target gene expression. Using proteomic tools, we uncovered a novel interaction between SETD6 and the oxidative stress sensor DJ1, a protein required for Nrf2-dependent transcription of antioxidant target genes...
February 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26627638/identification-of-novel-csf-biomarkers-for-neurodegeneration-and-their-validation-by-a-high-throughput-multiplexed-targeted-proteomic-assay
#17
Wendy E Heywood, Daniela Galimberti, Emily Bliss, Ernestas Sirka, Ross W Paterson, Nadia K Magdalinou, Miryam Carecchio, Emma Reid, Amanda Heslegrave, Chiara Fenoglio, Elio Scarpini, Jonathan M Schott, Nick C Fox, John Hardy, Kailiash Bhatia, Kailash Bahtia, Simon Heales, Neil J Sebire, Henrik Zetterberg, Henrik Zetterburg, Kevin Mills
BACKGROUND: Currently there are no effective treatments for many neurodegenerative diseases. Reliable biomarkers for identifying and stratifying these diseases will be important in the development of future novel therapies. Lewy Body Dementia (LBD) is considered an under diagnosed form of dementia for which markers are needed to discriminate LBD from other forms of dementia such as Alzheimer's Disease (AD). This work describes a Label-Free proteomic profiling analysis of cerebral spinal fluid (CSF) from non-neurodegenerative controls and patients with LBD...
2015: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/26284039/dj1-expression-downregulates-in-neuroblastoma-cells-sk-n-mc-chronically-exposed-to-hiv-1-and-cocaine
#18
Upal Roy, Venkata S R Atluri, Marisela Agudelo, Adriana Yndart, Zaohua Huang, Madhavan Nair
BACKGROUND: HIV-associated neurological disorder (HAND) has long been recognized as a consequence of human immunodeficiency virus (HIV) infection in the brain. The pathology of HAND gets more complicated with the recreational drug use such as cocaine. Recent studies have suggested multiple genetic influences involved in the pathology of addiction and HAND but only a fraction of the entire genetic risk has been investigated so far. In this regard, role of DJ1 protein (a gene linked to autosomal recessive early-onset Parkinson's disease) in regulating dopamine (DA) transmission and reactive oxygen species (ROS) production in neuronal cells will be worth investigating in HIV-1 and cocaine exposed microenvironment...
2015: Frontiers in Microbiology
https://www.readbyqxmd.com/read/26274610/parkinson-s-disease-in-saudi-patients-a-genetic-study
#19
MULTICENTER STUDY
Bashayer R Al-Mubarak, Saeed A Bohlega, Thamer S Alkhairallah, Amna I Magrashi, Maha I AlTurki, Dania S Khalil, Basma S AlAbdulaziz, Hussam Abou Al-Shaar, Abeer E Mustafa, Eman A Alyemni, Bashayer A Alsaffar, Asma I Tahir, Nada A Al Tassan
Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss in the midbrain. Genetic advances have highlighted underlying molecular mechanisms and provided clues to potential therapies. However, most of the studies focusing on the genetic component of PD have been performed on American, European and Asian populations, whereas Arab populations (excluding North African Arabs), particularly Saudis remain to be explored...
2015: PloS One
https://www.readbyqxmd.com/read/25819608/functional-dissection-of-a-strong-and-specific-microbe-associated-molecular-pattern-responsive-synthetic-promoter
#20
Mona Lehmeyer, Konstantin Kanofsky, Erik K R Hanko, Sarah Ahrendt, Maren Wehrs, Fabian Machens, Reinhard Hehl
Synthetic promoters are important for temporal and spatial gene expression in transgenic plants. To identify novel microbe-associated molecular pattern (MAMP)-responsive cis-regulatory sequences for synthetic promoter design, a combination of bioinformatics and experimental approaches was employed. One cis-sequence was identified which confers strong MAMP-responsive reporter gene activity with low background activity. The 35-bp-long cis-sequence was identified in the promoter of the Arabidopsis thaliana DJ1E gene, a homologue of the human oncogene DJ1...
January 2016: Plant Biotechnology Journal
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