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https://www.readbyqxmd.com/read/27876828/common-variants-in-the-parl-and-pink1-genes-increase-the-risk-to-leprosy-in-han-chinese-from-south-china
#1
Dong Wang, Deng-Feng Zhang, Jia-Qi Feng, Guo-Dong Li, Xiao-An Li, Xiu-Feng Yu, Heng Long, Yu-Ye Li, Yong-Gang Yao
Leprosy is a chronic infectious and neurological disease caused by Mycobacterium leprae, an unculturable pathogen with massive genomic decay and dependence on host metabolism. We hypothesized that mitochondrial genes PARL and PINK1 would confer risk to leprosy. Thirteen tag SNPs of PARL and PINK1 were analyzed in 3620 individuals with or without leprosy from China. We also sequenced the entire exons of PARL, PINK1 and PARK2 in 80 patients with a family history of leprosy by using the next generation sequencing technology (NGS)...
November 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27867343/park2-microduplication-clinical-and-molecular-characterization-of-a-further-case-and-review-of-the-literature
#2
Orazio Palumbo, Pietro Palumbo, Maria P Leone, Raffaella Stallone, Teresa Palladino, Marcella Vendemiale, Stefano Palladino, Francesco Papadia, Massimo Carella, Rira Fischetto
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27846363/phospho-ubiquitin-park2-complex-as-a-marker-for-mitophagy-defects
#3
Sylvie Callegari, Silke Oeljeklaus, Bettina Warscheid, Sven Dennerlein, Michael Thumm, Peter Rehling, Jan Dudek
The E3 ubiquitin ligase PARK2 and the mitochondrial protein kinase PINK1 are required for the initiation of mitochondrial damage-induced mitophagy. Together, PARK2 and PINK1 generate a phospho-ubiquitin signal on outer mitochondrial membrane proteins that triggers recruitment of the autophagy machinery. This paper describes the detection of a defined 500-kDa phospho-ubiquitin-rich PARK2 complex that accumulates on mitochondria upon treatment with the membrane uncoupler CCCP. Formation of this complex is dependent on the presence of PINK1 and is absent in mutant forms of PARK2, whereby mitophagy is also arrested...
November 15, 2016: Autophagy
https://www.readbyqxmd.com/read/27828868/prenatal-diagnosis-and-genetic-discoveries-of-an-intracranial-mixed-neuronal-glial-tumor-a-case-report-and-literature-review
#4
Lijuan Sun, Qingqing Wu, Yan Pei, Jinghua Li, Jintang Ye, Wenxue Zhi, Yan Liu, Puqing Zhang
BACKGROUND: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. CASE REPORT: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27824727/definition-of-a-putative-pathological-region-in-park2-associated-with-autism-spectrum-disorder-through-insilico-analysis-of-its-functional-structure
#5
Inês C Conceição, Maria M Rama, Bárbara Oliveira, Cátia Café, Joana Almeida, Susana Mouga, Frederico Duque, Guiomar Oliveira, Astrid M Vicente
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson's disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2...
November 7, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27798970/second-mutation-in-park2-is-absent-in-patients-with-sporadic-parkinson-s-disease-and-heterozygous-exonic-deletions-duplications-in-parkin-gene
#6
Marina V Shulskaya, Maria I Shadrina, Ekaterina Yu Fedotova, Nataliya Yu Abramycheva, Svetlana A Limborska, Sergey N Illarioshkin, Petr A Slominsky
AIM OF THE STUDY: Mutations in PARK2 are one of the causes of Parkinson's disease (PD). Deletions and duplications/triplications of one exon or exon groups account for a large proportion of mutations in the gene. At the present time, it is still not fully clear whether heterozygous mutations cause the development of PD. Our study aimed at conducting screening for mutations in PARK2 in patients with a sporadic form of PD to clarify the role of PARK2 in the development of PD. MATERIALS AND METHODS: The cohort of 327 patients with PD was screened by quantitative real-time polimerase chain reaction (PCR) with subsequent Sanger sequencing...
November 16, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27788143/brain-connectivity-changes-in-autosomal-recessive-parkinson-disease-a-model-for-the-sporadic-form
#7
Elena Makovac, Mara Cercignani, Laura Serra, Mario Torso, Barbara Spanò, Simona Petrucci, Lucia Ricciardi, Monia Ginevrino, Carlo Caltagirone, Anna Rita Bentivoglio, Enza Maria Valente, Marco Bozzali
Biallelic genetic mutations in the Park2 and PINK1 genes are frequent causes of autosomal recessive PD. Carriers of single heterozygous mutations may manifest subtle signs of disease, thus providing a unique model of preclinical PD. One emerging hypothesis suggests that non-motor symptom of PD, such as cognitive impairment may be due to a distributed functional disruption of various neuronal circuits. Using resting-state functional MRI (RS-fMRI), we tested the hypothesis that abnormal connectivity within and between brain networks may account for the patients' cognitive status...
2016: PloS One
https://www.readbyqxmd.com/read/27776828/mutation-analysis-of-sporadic-early-onset-alzheimer-s-disease-using-the-neurox-array
#8
Imelda S Barber, Anne Braae, Naomi Clement, Tulsi Patel, Tamar Guetta-Baranes, Keeley Brookes, Christopher Medway, Sally Chappell, Rita Guerreiro, Jose Bras, Dena Hernandez, Andrew Singleton, John Hardy, David M Mann, Kevin Morgan
We have screened sporadic early-onset Alzheimer's disease (sEOAD, n = 408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3 sEOAD individuals harboring a predicted pathogenic variant in MAPT (p.A469T), which has previously been associated with AD...
September 23, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27775850/clinicopathological-characteristics-and-genomic-profile-of-primary-sinonasal-tract-diffuse-large-b-cell-lymphoma-dlbcl-reveals-gain-at-1q31-and-rgs1-encoding-protein-high-rgs1-immunohistochemical-expression-associates-with-poor-overall-survival-in-dlbcl-nos
#9
Joaquim Carreras, Yara Yukie Kikuti, Sílvia Beà, Masashi Miyaoka, Shinichiro Hiraiwa, Haruka Ikoma, Ryoko Nagao, David Martin-Garcia, Itziar Salaverria, Ai Sato, Ichiki Akifumi, Giovanna Roncador, Juan F Garcia, Kiyoshi Ando, Elias Campo, Naoya Nakamura
AIMS AND METHODS: We aimed to define the clinicopathological characteristics of 29 primary sinonasal diffuse large B-cell lymphoma (DLBCL(sn) ) in a series of 240 DLBCL(all ()(NOS)()) including DLBCL(sn) training set (n=11) and validation set (n=18), and DLBCL(non-sn) (n=211). RESULTS: In the training set 82% had non-GCB phenotype and 18% were EBER(+) . The genomic profile showed gains((+)) of 1q21.3q31.2 (55%), 10q24.1 (46%), 11q14.1 (46%) and 18q12.1q23 (46%); losses((-)) of 6q26q27 (55%) and 9p21...
October 24, 2016: Histopathology
https://www.readbyqxmd.com/read/27754761/a-novel-pink1-and-park2-dependent-protective-neuroimmune-pathway-in-lethal-sepsis
#10
Rui Kang, Ling Zeng, Yangchun Xie, Zhengwen Yan, Borong Zhou, Lizhi Cao, Daniel J Klionsky, Kevin J Tracey, Jianhua Li, Haichao Wang, Timothy R Billiar, Jianxin Jiang, Daolin Tang
Although the PINK1-PARK2 pathway contributes to the pathogenesis of Parkinson disease, its roles in sepsis (a major challenge for critical care) were previously unknown. Here, we show that pink1(-/-) and park2(-/-) mice are more sensitive to polymicrobial sepsis-induced multiple organ failure and death. The decrease in the circulating level of the neurotransmitter dopamine in pink1(-/-) and park2(-/-) mice accelerates the release of a late sepsis mediator, HMGB1, via HIF1A-dependent anaerobic glycolysis and subsequent NLRP3-dependent inflammasome activation...
October 18, 2016: Autophagy
https://www.readbyqxmd.com/read/27740515/%C3%A2-park2-polymorphisms-predict-disease-progression-in-patients-infected-with-hepatitis-c-virus
#11
Ahmed A Al-Qahtani, Mashael R Al-Anazi, Fahad A Al-Zoghaibi, Ayman A Abdo, Faisal M Sanai, Waleed K Al-Hamoudi, Khalid A Alswat, Hamad I Al-Ashgar, Mohammed Q Khan, Ali Albenmousa, Hanif Khalak, Mohammed N Al-Ahdal
:  Background. The protein encoded by PARK2 gene is a component of the ubiquitin-proteasome system that mediates targeting of proteins for the degradation pathway. Genetic variations at PARK2 gene were linked to various diseases including leprosy, typhoid and cancer. The present study investigated the association of single nucleotide polymorphisms (SNPs) in the PARK2 gene with the development of hepatitis C virus (HCV) infection and its progression to severe liver diseases. MATERIAL AND METHODS: A total of 800 subjects, including 400 normal healthy subjects and 400 HCV-infected patients, were analyzed in this study...
November 2016: Annals of Hepatology
https://www.readbyqxmd.com/read/27717584/parkinson-s-disease-snca-park2-and-lrrk2-targeting-micrornas-elevated-in-cingulate-gyrus
#12
Roman Tatura, Theo Kraus, Armin Giese, Thomas Arzberger, Malte Buchholz, Günter Höglinger, Ulrich Müller
INTRODUCTION: In order to better understand the role of epigenetic influences in the etiology of Parkinson's disease (PD), we studied the expression of microRNAs in gyri cinguli of patients and controls. METHODS: Expression profiling of 744 well-characterized microRNAs in gyri cinguli from patients and controls using TaqMan array microRNA cards. Verification of significantly dysregulated microRNAs by SYBR Green qRT-PCR. RESULTS: First screen by TaqMan array identified 43 microRNAs that were upregulated in gyri cinguli from patients...
September 28, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27716287/modeling-neurological-diseases-with-induced-pluripotent-cells-reprogrammed-from-immortalized-lymphoblastoid-cell-lines
#13
Koki Fujimori, Toshiki Tezuka, Hiroyuki Ishiura, Jun Mitsui, Koichiro Doi, Jun Yoshimura, Hirobumi Tada, Takuya Matsumoto, Miho Isoda, Ryota Hashimoto, Nubutaka Hattori, Takuya Takahashi, Shinichi Morishita, Shoji Tsuji, Wado Akamatsu, Hideyuki Okano
Patient-specific induced pluripotent stem cells (iPSCs) facilitate understanding of the etiology of diseases, discovery of new drugs and development of novel therapeutic interventions. A frequently used starting source of cells for generating iPSCs has been dermal fibroblasts (DFs) isolated from skin biopsies. However, there are also numerous repositories containing lymphoblastoid B-cell lines (LCLs) generated from a variety of patients. To date, this rich bioresource of LCLs has been underused for generating iPSCs, and its use would greatly expand the range of targeted diseases that could be studied by using patient-specific iPSCs...
October 3, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27703082/fluorescent-parkin-cell-based-assay-development-for-the-screening-of-drugs-against-parkinson-disease
#14
Patricia Villacé, Rosa M Mella, Meritxell Roura-Ferrer, María Valcárcel, Clarisa Salado, Amaia Castilla, Danel Kortazar
Parkinson disease (PD) is a prevalent neurodegenerative disease characterized by selective degeneration of dopaminergic neurons in the substantia nigra, causing tremor and motor impairment. Parkin protein, whose mutants are the cause of Parkinson disease type 2 (PARK2), has been mechanistically linked to the regulation of apoptosis and the turnover of damaged mitochondria. Several studies have implicated aberrant mitochondria as a key contributor to the development of PD. In the attempt to discover new drugs, high-content cell-based assays are becoming more important to mimic the nature of biological processes and their diversifications in diseases and will be essential for lead identification and the optimization of therapeutic candidates...
October 4, 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/27693468/parkin-regulates-lipopolysaccharide-induced-proinflammatory-responses-in-acute-lung-injury
#15
Eleftheria Letsiou, Saad Sammani, Huashan Wang, Patrick Belvitch, Steven M Dudek
The acute respiratory distress syndrome (ARDS) is a serious condition resulting from direct or indirect lung injury that is associated with high mortality and morbidity. A key biological event in the pathogenesis of the acute lung injury (ALI) that causes acute respiratory distress syndrome is activation of the lung endothelium cells (ECs), which is triggered by a variety of inflammatory insults leading to barrier disruption and excessive accumulation of neutrophils. Recently, we demonstrated that imatinib protects against lipopolysaccharide (LPS)-induced EC activation by inhibiting c-Abl kinase...
September 13, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/27667361/dopa-responsive-dystonia-or-early-onset-parkinson-disease-genotype-phenotype-correlation
#16
Anna Potulska-Chromik, Dorota Hoffman-Zacharska, Małgorzata Łukawska, Anna Kostera-Pruszczyk
OBJECTIVE: Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype-phenotype correlation. MATERIAL/PARTICIPANTS: Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis...
September 12, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27641647/parkin-and-pink1-patient-ipsc-derived-midbrain-dopamine-neurons-exhibit-mitochondrial-dysfunction-and-%C3%AE-synuclein-accumulation
#17
Sun Young Chung, Sarah Kishinevsky, Joseph R Mazzulli, John Graziotto, Ana Mrejeru, Eugene V Mosharov, Lesly Puspita, Parvin Valiulahi, David Sulzer, Teresa A Milner, Tony Taldone, Dimitri Krainc, Lorenz Studer, Jae-Won Shim
Parkinson's disease (PD) is characterized by the selective loss of dopamine neurons in the substantia nigra; however, the mechanism of neurodegeneration in PD remains unclear. A subset of familial PD is linked to mutations in PARK2 and PINK1, which lead to dysfunctional mitochondria-related proteins Parkin and PINK1, suggesting that pathways implicated in these monogenic forms could play a more general role in PD. We demonstrate that the identification of disease-related phenotypes in PD-patient-specific induced pluripotent stem cell (iPSC)-derived midbrain dopamine (mDA) neurons depends on the type of differentiation protocol utilized...
October 11, 2016: Stem Cell Reports
https://www.readbyqxmd.com/read/27601173/proteomic-analysis-of-parkin-isoforms-expression-in-different-rat-brain-areas
#18
Agata Grazia D'Amico, Grazia Maugeri, Rita Reitano, Sebastiano Cavallaro, Velia D'Agata
PARK2 gene's mutations are related to the familial form of juvenile Parkinsonism, also known as the autosomic recessive juvenile Parkinsonism. This gene encodes for parkin, a 465-amino acid protein. To date, a large number of parkin isoforms, generated by an alternative splicing mechanism, have been described. Currently, Gene Bank lists 27 rat PARK2 transcripts, which matches to 20 exclusive parkin alternative splice variants. Despite the existence of these isoforms, most of the studies carried out so far, have been focused only on the originally cloned parkin...
September 6, 2016: Protein Journal
https://www.readbyqxmd.com/read/27592010/early-onset-parkinson-s-disease-due-to-dj1-mutations-an-indian-study
#19
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/27574110/parkinson-s-disease-related-gene-variants-influence-pre-mrna-splicing-processes
#20
K Gaweda-Walerych, F Mohagheghi, C Zekanowski, E Buratti
We have analyzed the impact of Parkinson's disease (PD)-related genetic variants on splicing using dedicated minigene assays. Out of 14 putative splicing variants in 5 genes (PINK1, [PTEN induced kinase 1]; LRPPRC, [leucine-rich pentatricopeptide repeat containing protein]; TFAM, [mitochondrial transcription factor A]; PARK2, [parkin RBR E3 ubiquitin protein ligase]; and HSPA9, [heat shock protein family A (Hsp70) member 9]) 4 LRPPRC variants, (IVS32-3C>T, IVS35+14C>T, IVS35+15C>T, and IVS9+30A>G) influenced pre-messenger RNA splicing by modulating the inclusion of the respective exons...
July 28, 2016: Neurobiology of Aging
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