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Jonathan P Hintze, Amelia Kirby, Erin Torti, Jacqueline R Batanian
Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D (PEPD) gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population...
May 2016: Molecular Syndromology
Martin Hampl, Esther Eberhardt, Andrias O O'Reilly, Angelika Lampert
Mutations in the voltage-gated sodium channel Nav1.7 are linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). PEPD mutations impair Nav1.7 fast inactivation and increase persistent currents. PEPD mutations also increase resurgent currents, which involve the voltage-dependent release of an open channel blocker. In contrast, IEM mutations, whenever tested, leave resurgent currents unchanged. Accordingly, the IEM deletion mutation L955 (ΔL955) fails to produce resurgent currents despite enhanced persistent currents, which have hitherto been considered a prerequisite for resurgent currents...
2016: Scientific Reports
Jacqueline M Achkar, Laetitia Cortes, Pascal Croteau, Corey Yanofsky, Marija Mentinova, Isabelle Rajotte, Michael Schirm, Yiyong Zhou, Ana Paula Junqueira-Kipnis, Victoria O Kasprowicz, Michelle Larsen, René Allard, Joanna Hunter, Eustache Paramithiotis
Biomarkers for active tuberculosis (TB) are urgently needed to improve rapid TB diagnosis. The objective of this study was to identify serum protein expression changes associated with TB but not latent Mycobacterium tuberculosis infection (LTBI), uninfected states, or respiratory diseases other than TB (ORD). Serum samples from 209 HIV uninfected (HIV(-)) and co-infected (HIV(+)) individuals were studied. In the discovery phase samples were analyzed via liquid chromatography and mass spectrometry, and in the verification phase biologically independent samples were analyzed via a multiplex multiple reaction monitoring mass spectrometry (MRM-MS) assay...
September 2015: EBioMedicine
Zedan Shen, Jian Sun, Jun Yao, Shaojie Wang, Mingquan Ding, Huilong Zhang, Zeyong Qian, Nan Zhao, Gang Sa, Rui Zhao, Xin Shen, Andrea Polle, Shaoliang Chen
Virus-induced gene silencing (VIGS) has been shown to be an effective tool for investigating gene functions in herbaceous plant species, but has rarely been tested in trees. The establishment of a fast and reliable transformation system is especially important for woody plants, many of which are recalcitrant to transformation. In this study, we established a tobacco rattle virus (TRV)-based VIGS system for two Populus species, Populus euphratica and P. × canescens. Here, TRV constructs carrying a 266 bp or a 558 bp fragment of the phytoene desaturase (PDS) gene were Agrobacterium-infiltrated into leaves of the two poplar species...
September 2015: Tree Physiology
Fernando S Goes, John McGrath, Dimitrios Avramopoulos, Paula Wolyniec, Mehdi Pirooznia, Ingo Ruczinski, Gerald Nestadt, Eimear E Kenny, Vladimir Vacic, Inga Peters, Todd Lencz, Ariel Darvasi, Jennifer G Mulle, Stephen T Warren, Ann E Pulver
Schizophrenia is a common, clinically heterogeneous disorder associated with lifelong morbidity and early mortality. Several genetic variants associated with schizophrenia have been identified, but the majority of the heritability remains unknown. In this study, we report on a case-control sample of Ashkenazi Jews (AJ), a founder population that may provide additional insights into genetic etiology of schizophrenia. We performed a genome-wide association analysis (GWAS) of 592 cases and 505 controls of AJ ancestry ascertained in the US...
December 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Kirk J Lubick, Shelly J Robertson, Kristin L McNally, Brett A Freedman, Angela L Rasmussen, R Travis Taylor, Avram D Walts, Seitaro Tsuruda, Mizuki Sakai, Mariko Ishizuka, Elena F Boer, Erin C Foster, Abhilash I Chiramel, Conrad B Addison, Richard Green, Daniel L Kastner, Michael G Katze, Steven M Holland, Antonella Forlino, Alexandra F Freeman, Manfred Boehm, Kentaro Yoshii, Sonja M Best
Type I interferon (IFN-α/β or IFN-I) signals through two receptor subunits, IFNAR1 and IFNAR2, to orchestrate sterile and infectious immunity. Cellular pathways that regulate IFNAR1 are often targeted by viruses to suppress the antiviral effects of IFN-I. Here we report that encephalitic flaviviruses, including tick-borne encephalitis virus and West Nile virus, antagonize IFN-I signaling by inhibiting IFNAR1 surface expression. Loss of IFNAR1 was associated with binding of the viral IFN-I antagonist, NS5, to prolidase (PEPD), a cellular dipeptidase implicated in primary immune deficiencies in humans...
July 8, 2015: Cell Host & Microbe
Ju-Sheng Zheng, Tao Huang, Kelei Li, Yanqiu Chen, Hua Xie, Danfeng Xu, Jianqin Sun, Duo Li
BACKGROUND/AIMS: Type 2 diabetes (T2D) is modulated by the interactions between genetic and dietary factors. This study sought to examine whether the associations of genome-wide association study (GWAS)-identified genetic variants with T2D risk were modulated by n-3 fatty acids in Chinese Hans. METHODS: Six hundred and twenty-two T2D patients and 293 healthy controls were recruited. Erythrocyte phospholipid fatty acids were measured by standard methods. Nine GWAS-identified T2D-related single-nucleotide polymorphisms (SNPs) were genotyped...
2015: Journal of Nutrigenetics and Nutrigenomics
Lu Yang, Yun Li, Arup Bhattacharya, Yuesheng Zhang
ERBB2 is an oncogenic receptor tyrosine kinase overexpressed in a subset of human breast cancer and other cancers. We recently found that human prolidase (PEPD), a dipeptidase, is a high affinity ERBB2 ligand and cross-links two ERBB2 monomers. Here, we show that recombinant human PEPD (rhPEPD) strongly inhibits ERBB2-overexpressing tumors in mice, whereas it does not impact tumors without ERBB2 overexpression. rhPEPD causes ERBB2 depletion, disrupts oncogenic signaling orchestrated by ERBB2 homodimers and heterodimers, and induces apoptosis...
May 1, 2015: EBioMedicine
Edward C Emery, Abdella M Habib, James J Cox, Adeline K Nicholas, Fiona M Gribble, C Geoffrey Woods, Frank Reimann
The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation. Gain-of-function mutations are typically pain-causing and have been associated with inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). IEM is usually caused by enhanced NaV1.7 channel activation, whereas mutations that alter steady-state fast inactivation often lead to PEPD. In contrast, nonfunctional mutations in SCN9A are known to underlie congenital insensitivity to pain (CIP)...
May 20, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Frank L Rice, Phillip J Albrecht, James P Wymer, Joel A Black, Ingemar Sj Merkies, Catharina G Faber, Stephen G Waxman
BACKGROUND: The skin is a morphologically complex organ that serves multiple complementary functions, including an important role in thermoregulation, which is mediated by a rich vasculature that is innervated by sympathetic and sensory endings. Two autosomal dominant disorders characterized by episodes of severe pain, inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD) have been directly linked to mutations that enhance the function of sodium channel Nav1.7. Pain attacks are accompanied by reddening of the skin in both disorders...
2015: Molecular Pain
Noboru Imai, Noriko Miyake, Yoshiaki Saito, Emiko Kobayashi, Masako Ikawa, Shinya Manaka, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
BACKGROUND: We encountered a 5-year-old girl who had short-lasting, severe, unilateral temporal headaches with ipsilateral lacrimation, nasal congestion and rhinorrhoea, and facial flushing after severe attacks. Family history revealed similar short-lasting, severe headaches in an older brother, younger sister, mother, maternal aunt, and maternal grandfather's brother. METHODS: We performed routine laboratory examinations and electrophysiological and radiological studies for three children, and whole-exome sequencing to determine the genetic causality in this family...
2015: Journal of Headache and Pain
V Insolia, V M Piccolini
Prolidase gene (PEPD) encodes prolidase enzyme, which is responsible for hydrolysis of dipeptides containing proline or hydroxyproline at their C-terminal end. Mutations in PEPD gene cause, in human, prolidase deficiency (PD), a rare autosomal recessive disorder. PD patients show reduced or absent prolidase activity and a broad spectrum of phenotypic traits including various degrees of mental retardation. This is the first report correlating PD and brain damages using as a model system prolidase deficient mice, the so called dark-like (dal) mutant mice...
2014: European Journal of Histochemistry: EJH
Marc R Suter, Zahurul A Bhuiyan, Cédric J Laedermann, Thierry Kuntzer, Muriel Schaller, Maurice W Stauffacher, Eliane Roulet, Hugues Abriel, Isabelle Decosterd, Christian Wider
BACKGROUND: Mutations in the SCN9A gene cause chronic pain and pain insensitivity syndromes. We aimed to study clinical, genetic, and electrophysiological features of paroxysmal extreme pain disorder (PEPD) caused by a novel SCN9A mutation. METHODS: Description of a 4-generation family suffering from PEPD with clinical, genetic and electrophysiological studies including patch clamp experiments assessing response to drug and temperature. RESULTS: The family was clinically comparable to those reported previously with the exception of a favorable effect of cold exposure and a lack of drug efficacy including with carbamazepine, a proposed treatment for PEPD...
February 2015: Anesthesiology
Quan-Zhen Lin, Rui-Xing Yin, Jian Wu, Tao Guo, Wei Wang, Jia-Qi Sun, Guang-Yuan Shi, Shao-Wen Shen, Jin-Zhen Wu, Shang-Ling Pan
Little is known about the association of peptidase D (PEPD) gene rs731839 single nucleotide polymorphism (SNP) and serum lipid profiles in the Chinese population. The objective of the present study was to detect the association of the PEPD rs731839 SNP and serum lipid levels in the Mulao and Han populations. Genotyping of the PEPD rs731839 SNP was performed in 751 subjects of Mulao and 762 subjects of Han using polymerase chain reaction and restriction fragment length polymorphism and then confirmed by direct sequencing...
2014: International Journal of Clinical and Experimental Pathology
Marie O Pohl, Thomas O Edinger, Silke Stertz
UNLABELLED: Influenza A virus (IAV) entry is a multistep process that requires the interaction of the virus with numerous host factors. In this study, we demonstrate that prolidase (PEPD) is a cellular factor required by IAV for successful entry into target cells. PEPD was selected as a candidate during an entry screen performed on nonvalidated primary hits from previously published genome-wide small interfering RNA (siRNA) screens. siRNA-mediated depletion of PEPD resulted in the decreased growth of IAV during mono- and multicycle growth...
October 2014: Journal of Virology
Anamarija Meglič, Mirjana Perkovič-Benedik, Katarina Trebušak Podkrajšek, Sara Bertok
BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7. Abnormal pain sensitivity occurs because of changes in the properties of voltage-gated sodium channels. Different mutations in SCN9A and a spectrum of clinical expressions have been described. CASE-DIAGNOSIS/TREATMENT: Here we describe a 3-year-old child with a rare clinical picture of PEPD...
September 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
L Yang, Y Li, Y Zhang
ErbB2, an important membrane-bound receptor tyrosine kinase, was discovered nearly 30 years ago, but a natural ligand has never been found previously. ErbB2 is also an important oncogene and anticancer target, and its overexpression in cancer is associated with poor disease prognosis. Here, we report that human prolidase (PEPD) is a high affinity ligand of ErbB2 and binds as a homodimer to subdomain 3 in the extracellular domain of this receptor. In ErbB2-overexpressing cells, both ErbB2 monomers and activated dimers exist...
2014: Cell Death & Disease
Junjie Yang, Bingbing Sun, He Huang, Yu Jiang, Liuyang Diao, Biao Chen, Chongmao Xu, Xin Wang, Jinle Liu, Weihong Jiang, Sheng Yang
Genetic modifications of bacterial chromosomes are important for both fundamental and applied research. In this study, we developed an efficient, easy-to-use system for genetic modification of the Escherichia coli chromosome, a two-plasmid method involving lambda Red (λ-Red) recombination and I-SceI cleavage. An intermediate strain is generated by integration of a resistance marker gene(s) and I-SceI recognition sites in or near the target gene locus, using λ-Red PCR targeting. The intermediate strain is transformed with a donor plasmid carrying the target gene fragment with the desired modification flanked by I-SceI recognition sites, together with a bifunctional helper plasmid for λ-Red recombination and I-SceI endonuclease...
July 2014: Applied and Environmental Microbiology
Francesco Bellia, Graziella Vecchio, Enrico Rizzarelli
Carnosinases are Xaa-His dipeptidases that play diverse functions throughout all kingdoms of life. Human isoforms of carnosinase (CN1 and CN2) under appropriate conditions catalyze the hydrolysis of the dipeptides carnosine (β-alanyl-L-histidine) and homocarnosine (γ-aminobutyryl-L-histidine). Alterations of serum carnosinase (CN1) activity has been associated with several pathological conditions, such as neurological disorders, chronic diseases and cancer. For this reason the use of carnosinase levels as a biomarker in cerebrospinal fluid (CSF) has been questioned...
2014: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Chong Wang, Yan-Yuan Li, Xiang Li, Li-Liang Wei, Xiu-Yun Yang, Dan-Dan Xu, Ting-Ting Jiang, Zhong-Jie Li, Zhong-Liang Chen, Xing Zhang, Ji-Yan Liu, Ze-Peng Ping, Ji-Cheng Li
BACKGROUND: Mycobacterium tuberculosis infection can activate the immune system, leading to characteristic pathological changes such as inflammatory granuloma, caseous necrosis, and cavity formation. METHODS: Clinical data of 187 cases of pulmonary tuberculosis (PTB) were analyzed using statistical methods, while serum levels of complement C4b (C4b), fibronectin (FN), and prolidase (PEPD) were detected using the ELISA method among the control, minimal PTB, moderate PTB, and advanced PTB groups...
2014: BMC Infectious Diseases
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