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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
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
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
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
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
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
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
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
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
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
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
Harmesh N Chaudhari, Sang Woo Kim, Jong Won Yun
Regulation of DJ1 is associated with a number of human diseases. To determine the involvement of DJ1 in progression of diabetes in a gender-dependent manner, we investigated its tissue-specific expression in streptozotocin (STZ)-induced diabetic male and female rats in this study. In animal experiments, females showed greater susceptibility towards developing diabetes because of lower insulin secretion and higher blood glucose levels as compared to male diabetic rats upon exposure to STZ. Immunoblotting confirmed sexually dimorphic regulation of DJ1 in various metabolic tissues such as the liver, pancreas and skeletal muscle...
May 2015: Journal of Cellular and Molecular Medicine
Aslıhan Özoğuz, Özgün Uyan, Güneş Birdal, Ceren Iskender, Ece Kartal, Suna Lahut, Özgür Ömür, Zeynep Sena Agim, Aslı Gündoğdu Eken, Nesli Ece Sen, Pınar Kavak, Ceren Saygı, Peter C Sapp, Pamela Keagle, Yeşim Parman, Ersin Tan, Filiz Koç, Feza Deymeer, Piraye Oflazer, Haşmet Hanağası, Hakan Gürvit, Başar Bilgiç, Hacer Durmuş, Mustafa Ertaş, Dilcan Kotan, Mehmet Ali Akalın, Halil Güllüoğlu, Mehmet Zarifoğlu, Fikret Aysal, Nilgün Döşoğlu, Kaya Bilguvar, Murat Günel, Özlem Keskin, Tahsin Akgün, Hilmi Özçelik, John E Landers, Robert H Brown, A Nazlı Başak
The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey...
April 2015: Neurobiology of Aging
Raquel Requejo-Aguilar, Irene Lopez-Fabuel, Daniel Jimenez-Blasco, Emilio Fernandez, Angeles Almeida, Juan P Bolaños
DnaJ-1 or hsp40/hdj-1 (DJ1) is a multi-functional protein whose mutations cause autosomal recessive early-onset Parkinson's disease (PD). DJ1 loss of function disrupts mitochondrial function, but the signalling pathway, whereby it interferes with energy metabolism, is unknown. In the present study, we found that mouse embryonic fibroblasts (MEFs) obtained from DJ1-null (dj1-/-) mice showed higher glycolytic rate than those from wild-type (WT) DJ1 (dj1+/+). This effect could be counteracted by the expression of the full-length cDNA encoding the WT DJ1, but not its DJ1-L166P mutant form associated with PD...
April 15, 2015: Biochemical Journal
Fatma Nabli, Samia Ben Sassi, Rim Amouri, John E Duda, Matthew J Farrer, Fayçal Hentati
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) were found to be a significant cause of late-onset autosomal dominant forms of Parkinson's disease (PD). To determine the motor characteristics of LRRK2-related disease, we conducted a longitudinal study of 58 G2019S LRRK2-associated PD patients and compared them with genetically undefined (GU) PD patients. Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations...
February 2015: Movement Disorders: Official Journal of the Movement Disorder Society
Pamela Lopert, Manisha Patel
Mutations in the DJ-1 gene have been shown to cause a rare autosomal-recessive genetic form of Parkinson's disease (PD). The function of DJ-1 and its role in PD development has been linked to multiple pathways, however its exact role in the development of PD has remained elusive. It is thought that DJ-1 may play a role in regulating reactive oxygen species (ROS) formation and overall oxidative stress in cells through directly scavenging ROS itself, or through the regulation of ROS scavenging systems such as glutathione (GSH) or thioredoxin (Trx) or ROS producing complexes such as complex I of the electron transport chain...
2014: Redox Biology
Yi Sun, Wen-Jia Zhang, Xin Zhao, Ren-Pei Yuan, Hui Jiang, Xiao-Ping Pu
PARK7 (DJ1) is a multifunctional oxidative stress response protein that protects cells against reactive oxygen species (ROS) and mitochondrial damage. PARK7 defects are known to cause various physiological dysfunctions, including infertility. Asthenozoospermia (AS), i.e. low-motile spermatozoa in the ejaculate, is a common cause of human male infertility. In this study, we found that downregulation of PARK7 resulted in increased levels of lipid peroxide and ROS, decreased mitochondrial membrane potential, and reduced mitochondrial complex I enzyme activity in the spermatozoa from AS patients...
September 2014: Reproduction: the Official Journal of the Society for the Study of Fertility
Marcos A Muñiz Lino, Yadira Palacios-Rodríguez, Sergio Rodríguez-Cuevas, Verónica Bautista-Piña, Laurence A Marchat, Erika Ruíz-García, Horacio Astudillo-de la Vega, Ana E González-Santiago, Ali Flores-Pérez, José Díaz-Chávez, Ángeles Carlos-Reyes, Elizbeth Álvarez-Sánchez, César López-Camarillo
UNLABELLED: There are no targeted therapeutic modalities for triple-negative breast cancer (TNBC), thus it is associated with poor prognosis and worst clinical outcome. Here, our aim was to identify deregulated proteins in TNBC with potential therapeutic applications. Proteomics profiling of TNBC and normal breast tissues through two-dimensional electrophoresis and ESI-MS/MS mass spectrometry revealed the existence of 16 proteins (RhoGDI-2, HSP27, SOD1, DJ1, UBE2N, PSME1, FTL, SH3BGRL, and eIF5A-1) with increased abundance in carcinomas...
December 5, 2014: Journal of Proteomics
Julia Bornhorst, Sudipta Chakraborty, Sören Meyer, Hanna Lohren, Sigrid Grosse Brinkhaus, Adam L Knight, Kim A Caldwell, Guy A Caldwell, Uwe Karst, Tanja Schwerdtle, Aaron Bowman, Michael Aschner
Parkinson's disease (PD) is a neurodegenerative brain disorder characterized by selective dopaminergic (DAergic) cell loss that results in overt motor and cognitive deficits. Current treatment options exist to combat PD symptomatology, but are unable to directly target its pathogenesis due to a lack of knowledge concerning its etiology. Several genes have been linked to PD, including three genes associated with an early-onset familial form: parkin, pink1 and dj1. All three genes are implicated in regulating oxidative stress pathways...
March 2014: Metallomics: Integrated Biometal Science
Y Soini, M Eskelinen, P Juvonen, V Kärjä, K M Haapasaari, A Saarela, P Karihtala
The aim of this study was to investigate the expression of Nrf2, sulfiredoxin and DJ1 in pancreatic cancer. The expression of Nrf2, sulfiredoxin and DJ1 was studied immunohistochemically in a large set of pancreatic adenocarcinomas consisting of 103 cases. Eighty six percent of the cases showed cytoplasmic Nrf2 and 24% nuclear Nrf2 positivity. Sulfiredoxin positivity was observed in 54% and DJ1 positivity in all cases. Nuclear Nrf2 positivity had an association with sulfiredoxin (p=0.019) and was associated with a poor survival (p=0...
January 2014: Pathology, Research and Practice
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