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Bloom Syndrome

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https://www.readbyqxmd.com/read/28063379/oxidative-stress-mitochondrial-abnormalities-and-antioxidant-defense-in-ataxia-telangiectasia-bloom-syndrome-and-nijmegen-breakage-syndrome
#1
REVIEW
Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis...
December 28, 2016: Redox Biology
https://www.readbyqxmd.com/read/27998982/the-human-recq4-helicase-contains-a-functional-rqc-domain-that-is-essential-for-activity
#2
Aditya Mojumdar, Matteo De March, Francesca Marino, Silvia Onesti
RecQ helicases are essential in the maintenance of genome stability. Five paralogues (RecQ1, Bloom, Werner, RecQ4, RecQ5) are found in human cells, with distinct but overlapping roles. Mutations in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes), characterized by genetic instability, growth deficiency and predisposition to cancer. Previous studies suggested that RecQ4 was unique because it did not seem to contain a C-terminal region (RQC) found in the other RecQ paralogues; such region consists of a Zn domain and a winged-helix domain and plays an important role in enzyme activity...
December 20, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27989672/bloom-syndrome-helicase-promotes-meiotic-crossover-patterning-and-homolog-disjunction
#3
Talia Hatkevich, Kathryn P Kohl, Susan McMahan, Michaelyn A Hartmann, Andrew M Williams, Jeff Sekelsky
In most sexually reproducing organisms, crossover formation between homologous chromosomes is necessary for proper chromosome disjunction during meiosis I. During meiotic recombination, a subset of programmed DNA double-strand breaks (DSBs) are repaired as crossovers, with the remainder becoming noncrossovers [1]. Whether a repair intermediate is designated to become a crossover is a highly regulated decision that integrates several crossover patterning processes, both along chromosome arms (interference and the centromere effect) and between chromosomes (crossover assurance) [2]...
January 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/27977684/loss-of-rmi2-increases-genome-instability-and-causes-a-bloom-like-syndrome
#4
Damien F Hudson, David J Amor, Amber Boys, Kathy Butler, Lorna Williams, Tao Zhang, Paul Kalitsis
Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27966805/successful-treatment-of-mature-b-cell-lymphoma-with-rituximab-based-chemotherapy-in-a-patient-with-bloom-syndrome
#5
Wasil Jastaniah
This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11-year-old male with mature B-cell lymphoma, had minimal therapeutic response and significant dose-limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab-based chemotherapy protocol. This case highlights that the rituximab-based chemotherapy protocol is an effective and safe treatment alternative for mature B-cell lymphoma in patients with BS. Further trials are warranted to investigate this modality of treatment...
December 14, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27861482/-bloom-syndrome-clinical-manifestations-and-cromosomal-study-in-a-mexican-child
#6
Gloria María Rosales-Solis, César Adrián Martínez-Longoria, Guillermo Antonio Guerrero-González, Jorge Ocampo-Garza, Jorge Ocampo-Candiani
Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.
November 2016: Gaceta Médica de México
https://www.readbyqxmd.com/read/27859906/human-recq-helicase-pathogenic-variants-population-variation-and-missing-diseases
#7
Wenqing Fu, Alessio Ligabue, Kai J Rogers, Joshua M Akey, Raymond J Monnat
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level variants were identified, across 17,605 potential mutation sites. Direct counting of BLM, RECQL4, and WRN pathogenic variants was used to determine aggregate and disease-specific carrier frequencies...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27849570/the-werner-syndrome-helicase-coordinates-sequential-strand-displacement-and-fen1-mediated-flap-cleavage-during-polymerase-%C3%AE-elongation
#8
Baomin Li, Sita Reddy, Lucio Comai
The Werner syndrome protein (WRN) suppresses the loss of telomeres replicated by lagging strand synthesis by a yet to be defined mechanism. Here we show that whereas either WRN or the Bloom syndrome helicase (BLM) stimulate DNA polymerase δ progression across telomeric G-rich repeats, only WRN promotes sequential strand displacement synthesis and FEN1 cleavage, a critical step in Okazaki fragment maturation, at these sequences. Helicase activity as well as the conserved winged-helix (WH) motif and the Helicase-and-RNaseD C-terminal (HRDC) domain play important but distinct roles in this process...
November 14, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#9
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27745641/understanding-photodermatoses-associated-with-defective-dna-repair-syndromes-with-cancer-predisposition
#10
REVIEW
Cerrene N Giordano, Yik Weng Yew, Graciela Spivak, Henry W Lim
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis...
November 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27684421/clinically-significant-cardiopulmonary-events-and-the-effect-of-definition-standardization-on-apnea-of-prematurity-management
#11
M B F Powell, C R Ahlers-Schmidt, M Engel, B T Bloom
OBJECTIVE: To define the impact of care standardization on caffeine and cardiorespiratory monitoring at neonatal intensive care unit (NICU) discharge. STUDY DESIGN: Electronic records were abstracted for infants aged 24-36 weeks gestation with birth weights appropriate for gestational age. Infants who died, transferred prior to discharge, had major pulmonary anomalies, required a home monitor for mechanical ventilation or had a family history of sudden infant death syndrome were excluded...
January 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27616971/harmful-algal-blooms-and-public-health
#12
Lynn M Grattan, Sailor Holobaugh, J Glenn Morris
The five most commonly recognized Harmful Algal Bloom related illnesses include Ciguatera poisoning, Paralytic Shellfish poisoning, Neurotoxin Shellfish poisoning, Diarrheic Shellfish Poisoning and Amnesic Shellfish poisoning. Although they are each the product of different toxins, toxin assemblages or HAB precursors these clinical syndromes have much in common. Exposure occurs through the consumption of fish or shellfish; routine clinical tests are not available for diagnosis; there is no known antidote for exposure; and the risk of these illnesses can negatively impact local fishing and tourism industries...
July 2016: Harmful Algae
https://www.readbyqxmd.com/read/27601591/cytidine-deaminase-deficiency-reveals-new-therapeutic-opportunities-against-cancer
#13
Hamza Mameri, Ivan Bieche, Dider Meseure, Elisabetta Marangoni, Géraldine Buhagiar-Labarchède, Andre Nicolas, Sophie Vacher, Rosine Onclercq-Delic, Vinodh Rajapakse, Sudhir Varma, William C Reinhold, Yves Pommier, Mounira Amor-Guéret
PURPOSE: One of the main challenges in cancer therapy is the identification of molecular mechanisms mediating resistance or sensitivity to treatment. Cytidine deaminase (CDA) was reported to be downregulated in cells derived from patients with Bloom syndrome, a genetic disease associated with a strong predisposition to a wide range of cancers. The purpose of this study was to determine whether CDA deficiency could be associated with tumors from the general population and could constitute a predictive marker of susceptibility to anti-tumor drugs...
September 6, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27601585/mutator-phenotype-and-dna-double-strand-break-repair-in-blm-helicase-deficient-human-cells
#14
Tetsuya Suzuki, Manabu Yasui, Masamitsu Honma
Bloom syndrome (BS), an autosomal recessive disorder of the BLM gene, predisposes sufferers to various cancers. To investigate the mutator phenotype and genetic consequences of DNA double-strand breaks (DSBs) in BS cells, we developed BLM helicase-deficient human cells by disrupting the BLM gene. Cells with a loss of heterozygosity (LOH) due to homologous recombination (HR) or nonhomologous end joining (NHEJ) can be restored with or without site-directed DSB induction. BLM cells exhibited a high frequency of spontaneous interallelic HR with crossover, but noncrossover events with long-tract gene conversions also occurred...
December 1, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27597923/adenocarcinoma-of-the-right-colon-in-a-patient-with-bloom-syndrome
#15
Carlos Augusto Real Martinez, Lilian Vital Pinheiro, Debora Helena Rossi, Michel Gardere Camargo, Maria de Lourdes Setsuko Ayrizono, Raquel Franco Leal, Cláudio Saddy Rodrigues Coy
Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. Clinical manifestations also include short stature, dolichocephaly, prominent ears, micrognathia, malar hypoplasia and a high-pitched voice, immunodeficiency, type II diabetes, and hypogonadism associated with male infertility and female subfertility...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27484606/oral-cancer-related-inherited-cancer-syndromes-a-comprehensive-review
#16
Gargi S Sarode, Akshit Batra, Sachin C Sarode, Sujata Yerawadekar, Shankargouda Patil
Oral squamous cell carcinoma is the most common malignancy of the oral cavity, which is usually preceded by a myriad of oral potentially malignant disorders (OPMDs). In the classification of OPMDs, inherited cancer syndromes (ICSs) were proposed as one of the categories. Inherited cancer syndromes are genetic disorders in which inherited genetic mutation in one or more genes predispose the affected individuals to the development of cancer and may also cause its early onset. Many of these syndromes are caused by mutations in tumor suppressor genes, oncogenes, and genes involved in angiogenesis...
June 1, 2016: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/27429770/the-taming-of-the-neural-crest-a-developmental-perspective-on-the-origins-of-morphological-covariation-in-domesticated-mammals
#17
REVIEW
Marcelo R Sánchez-Villagra, Madeleine Geiger, Richard A Schneider
Studies on domestication are blooming, but the developmental bases for the generation of domestication traits and breed diversity remain largely unexplored. Some phenotypic patterns of human neurocristopathies are suggestive of those reported for domesticated mammals and disrupting neural crest developmental programmes have been argued to be the source of traits deemed the 'domestication syndrome'. These character changes span multiple organ systems and morphological structures. But an in-depth examination within the phylogenetic framework of mammals including domesticated forms reveals that the distribution of such traits is not universal, with canids being the only group showing a large set of predicted features...
June 2016: Royal Society Open Science
https://www.readbyqxmd.com/read/27427384/fancd2-limits-blm-dependent-telomere-instability-in-the-alternative-lengthening-of-telomeres-pathway
#18
Heather Root, Andrew Larsen, Martin Komosa, Fakhriya Al-Azri, Ren Li, David P Bazett-Jones, M Stephen Meyn
Fanconi anemia and Bloom syndrome are genomic instability syndromes caused by mutations in proteins that participate in overlapping DNA repair and replication pathways. Here, we show that the monoubiquitinated form of the Fanconi Anemia protein FANCD2 acts in opposition to the BLM DNA helicase to restrain telomere replication and recombination in human cells that utilize the Alternative Lengthening of Telomeres (ALT) pathway. ALT relies on exchanges of telomeric DNA to maintain telomeres, a process that we show FANCD2 suppresses...
August 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27383768/a-balanced-pyrimidine-pool-is-required-for-optimal-chk1-activation-to-prevent-ultrafine-anaphase-bridge-formation
#19
Simon Gemble, Géraldine Buhagiar-Labarchède, Rosine Onclercq-Delic, Denis Biard, Sarah Lambert, Mounira Amor-Guéret
Cytidine deaminase (CDA) deficiency induces an excess of cellular dCTP, which reduces basal PARP-1 activity, thereby compromising complete DNA replication, leading to ultrafine anaphase bridge (UFB) formation. CDA dysfunction has pathological implications, notably in cancer and in Bloom syndrome. It remains unknown how reduced levels of PARP-1 activity and pyrimidine pool imbalance lead to the accumulation of unreplicated DNA during mitosis. We report that a decrease in PARP-1 activity in CDA-deficient cells impairs DNA-damage-induced Chk1 activation, and, thus, the downstream checkpoints...
August 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27365035/use-of-biosensors-for-the-detection-of-marine-toxins
#20
REVIEW
Daniel A McPartlin, Michael J Lochhead, Laurie B Connell, Gregory J Doucette, Richard J O'Kennedy
Increasing occurrences of harmful algal blooms (HABs) in the ocean are a major concern for countries around the globe, and with strong links between HABs and climate change and eutrophication, the occurrences are only set to increase. Of particular concern with regard to HABs is the presence of toxin-producing algae. Six major marine biotoxin groups are associated with HABs. Ingestion of such toxins via contaminated shellfish, fish, or other potential vectors, can lead to intoxication syndromes with moderate to severe symptoms, including death in extreme cases...
June 30, 2016: Essays in Biochemistry
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