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https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#1
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathological studies are performed to prove, localize, treat, and monitor disease progression. Recently, improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (less than 1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29138179/association-between-leukocyte-telomere-length-and-the-risk-of-incident-atrial-fibrillation-the-framingham-heart-study
#2
Laila Staerk, Biqi Wang, Kathryn L Lunetta, Robert H Helm, Darae Ko, Jason A Sherer, Patrick T Ellinor, Steven A Lubitz, David D McManus, Ramachandran S Vasan, Emelia J Benjamin, Ludovic Trinquart
BACKGROUND: Advancing age is a prominent risk factor for atrial fibrillation (AF). Shorter telomere length is a biomarker of biological aging, but the link between shorter telomere length and increased risk of AF remains unclear. We examined the association between shorter leukocyte telomere length (LTL) and incident AF. METHODS AND RESULTS: We included AF-free participants from the observational Framingham Heart Study Offspring cohort from 1995 to 1998, who had LTL measurements...
November 14, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29133298/functional-redundancy-of-variant-and-canonical-histone-h3-lysine-9-modification-in-drosophila
#3
Taylor J R Penke, Daniel J McKay, Brian D Strahl, A Gregory Matera, Robert J Duronio
Histone post-translational modifications (PTMs) and differential incorporation of variant and canonical histones into chromatin are central modes of epigenetic regulation. Despite similar protein sequences, histone variants are enriched for different suites of PTMs compared to their canonical counterparts. For example, variant histone H3.3 occurs primarily in transcribed regions and is enriched for "active" histone PTMs like Lys9 acetylation (H3.3K9ac), whereas the canonical histone H3 is enriched for Lys9 methylation (H3K9me), which is found in transcriptionally silent heterochromatin...
November 13, 2017: Genetics
https://www.readbyqxmd.com/read/29130975/karyotypes-versus-genomes-the-nymphalid-butterflies-melitaea-cinxia-danaus-plexippus-and-d-chrysippus
#4
Walther Traut, Virpi Ahola, David A S Smith, Ian J Gordon, Richard H Ffrench-Constant
The number of sequenced lepidopteran genomes is increasing rapidly. However, the corresponding assemblies rarely represent whole chromosomes and generally also lack the highly repetitive W sex chromosome. Knowledge of the karyotypes can facilitate genome assembly and further our understanding of sex chromosome evolution in Lepidoptera. Here, we describe the karyotypes of the Glanville fritillary Melitaea cinxia (n = 31), the monarch Danaus plexippus (n = 30), and the African queen D. chrysippus (2n = 60 or 59, depending on the source population)...
November 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29124890/new-perspectives-on-telomerase-rna-structure-and-function
#5
REVIEW
Cherie Musgrove, Linnea I Jansson, Michael D Stone
Telomerase is an ancient ribonucleoprotein (RNP) that protects the ends of linear chromosomes from the loss of critical coding sequences through repetitive addition of short DNA sequences. These repeats comprise the telomere, which together with many accessory proteins, protect chromosomal ends from degradation and unwanted DNA repair. Telomerase is a unique reverse transcriptase (RT) that carries its own RNA to use as a template for repeat addition. Over decades of research, it has become clear that there are many diverse, crucial functions played by telomerase RNA beyond simply acting as a template...
November 9, 2017: Wiley Interdisciplinary Reviews. RNA
https://www.readbyqxmd.com/read/29124392/tracking-the-evolutionary-pathway-of-sex-chromosomes-among-fishes-characterizing-the-unique-xx-xy1y2-system-in-hoplias-malabaricus-teleostei-characiformes
#6
Ezequiel Aguiar de Oliveira, Alexandr Sember, Luiz Antonio Carlos Bertollo, Cassia Fernanda Yano, Tariq Ezaz, Orlando Moreira-Filho, Terumi Hatanaka, Vladimir Trifonov, Thomas Liehr, Ahmed Basheer Hamid Al-Rikabi, Petr Ráb, Hugmar Pains, Marcelo de Bello Cioffi
The Neotropical fish, Hoplias malabaricus, is one of the most cytogenetically studied fish taxon with seven distinct karyomorphs (A-G) comprising varying degrees of sex chromosome differentiation, ranging from homomorphic to highly differentiated simple and multiple sex chromosomes. Therefore, this fish offers a unique opportunity to track evolutionary mechanisms standing behind the sex chromosome evolution and differentiation. Here, we focused on a high-resolution cytogenetic characterization of the unique XX/XY1Y2 multiple sex chromosome system found in one of its karyomorphs (G)...
November 9, 2017: Chromosoma
https://www.readbyqxmd.com/read/29109736/identification-of-neuroprotective-factors-associated-with-successful-ageing-and-risk-of-cognitive-impairment-among-malaysia-older-adults
#7
Huijin Lau, Arimi Fitri Mat Ludin, Nor Fadilah Rajab, Suzana Shahar
The increase of ageing population has raised public attention on the concept of successful ageing. Studies have shown that vitamin D, telomere length, and brain-derived neurotrophic factor (BDNF) have been associated with cognitive function. Therefore, this study aimed to identify neuroprotective factors for cognitive decline in different ageing groups. A total of 300 older adults aged 60 years and above were recruited in this population based cross-sectional study. Participants were categorized into three groups: mild cognitive impairment (MCI) (n = 100), usual ageing (UA) (n = 100), and successful ageing (SA) (n = 100)...
2017: Current Gerontology and Geriatrics Research
https://www.readbyqxmd.com/read/29108638/telomere-length-heterogeneity-in-placenta-revealed-with-high-resolution-telomere-length-analysis
#8
I Garcia-Martin, A B Janssen, R E Jones, J W Grimstead, R J A Penketh, D M Baird, R M John
INTRODUCTION: Telomeres, are composed of tandem repeat sequences located at the ends of chromosomes and are required to maintain genomic stability. Telomeres can become shorter due to cell division and specific lifestyle factors. Critically shortened telomeres are linked to cellular dysfunction, senescence and aging. A number of studies have used low resolution techniques to assess telomere length in the placenta. In this study, we applied Single Telomere Length Analysis (STELA) which provides high-resolution chromosome specific telomere length profiles to ask whether we could obtain more detailed information on the length of individual telomeres in the placenta...
November 2017: Placenta
https://www.readbyqxmd.com/read/29107826/inhibition-of-vascular-smooth-muscle-cells-premature-senescence-with-rutin-attenuates-and-stabilizes-diabetic-atherosclerosis
#9
Yihui Li, Ranran Qin, Hongdan Yan, Feng Wang, Shanying Huang, Yun Zhang, Ming Zhong, Wei Zhang, Zhihao Wang
Atherosclerosis is an age-associated disease; however, diabetic atherosclerosis has higher severity beyond age range for accumulative premature senescent cells in diabetes. Recent findings suggest that rutin, a flavonoid, has potential benefits for diabetic individuals. This study was designed to evaluate the effects of rutin on premature senescence and atherosclerosis. Apolipoprotein E knockout mice exhibiting insulin resistance after 6 weeks of high-fat diet were administered with a low dose of streptozotocin (STZ) to induce diabetes...
September 28, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29100249/longer-telomere-length-in-elite-master-sprinters-relationship-to-performance-and-body-composition
#10
Herbert Gustavo Simoes, Caio Victor Sousa, Thiago Dos Santos Rosa, Samuel da Silva Aguiar, Lysleine Alves Deus, Erica Carine Campos Caldas Rosa, Angelica Amorim Amato, Rosangela Vieira Andrade
Emergent evidence suggests that the long-term healthy lifestyle of master athletes may attenuate aging. We compared telomere length (TL) of high-level master sprinters and non-athlete age-matched controls, and analyzed the relationships of TL with performance and body fat. Elite master sprinters (n=11; aged 50.1±9.2yrs) and healthy untrained controls (n=10; aged 45.4±10.9yrs) had blood samples collected for biochemical and biomolecular analyses. Master sprinters had longer TL, lower body fat and BMI, and a better lipid profile than age-matched controls (p<0...
November 3, 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/29089944/t-cell-immunosenescence-after-early-life-adversity-association-with-cytomegalovirus-infection
#11
Martha M C Elwenspoek, Krystel Sias, Xenia Hengesch, Violetta K Schaan, Fleur A D Leenen, Philipp Adams, Sophie B Mériaux, Stephanie Schmitz, Fanny Bonnemberger, Anouk Ewen, Hartmut Schächinger, Claus Vögele, Claude P Muller, Jonathan D Turner
Early life adversity (ELA) increases the risk for multiple age-related diseases, such as diabetes type 2 and cardiovascular disease. As prevalence is high, ELA poses a major and global public health problem. Immunosenescence, or aging of the immune system, has been proposed to underlie the association between ELA and long-term health consequences. However, it is unclear what drives ELA-associated immunosenescence and which cells are primarily affected. We investigated different biomarkers of immunosenescence in a healthy subset of the EpiPath cohort...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29049398/gravidity-is-not-associated-with-telomere-length-in-a-biracial-cohort-of-middle-aged-women-the-coronary-artery-risk-development-in-young-adults-cardia-study
#12
Abbi D Lane-Cordova, Eli Puterman, Erica P Gunderson, Cheeling Chan, Lifang Hou, Mercedes Carnethon
OBJECTIVE: Having experienced 2-3 births is associated with reduced mortality versus women with <2 or ≥4 births. The effect of 2-3 births on lifespan may be associated with delayed cellular aging. We hypothesized telomere length, a marker of cellular aging, would be longer in women who had 2-3 pregnancies. METHODS: Leukocyte telomere length was measured using quantitative real-time polymerase chain reaction in 620 women in CARDIA at the year 15 and 20 exams, expressed as the ratio of telomere repeat copy number to single-copy gene copy number (T/S)...
2017: PloS One
https://www.readbyqxmd.com/read/29043642/the-detection-and-analysis-of-chromosome-fragile-sites
#13
Victoria A Bjerregaard, Özgün Özer, Ian D Hickson, Ying Liu
A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of cells to DNA replication stress. Based on their frequency, fragile sites are classified as either common (CFSs; present in all individuals) or rare (RFSs; present in only a few individuals). Interest in fragile sites has remained high since their discovery in 1965, because of their association with human disease. CFSs are recognized as drivers of oncogene activation and genome instability in cancer cells, while some RFSs are associated with neurodegenerative diseases...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29043616/analyzing-genome-rearrangements-in-saccharomyces-cerevisiae
#14
Anjana Srivatsan, Christopher D Putnam, Richard D Kolodner
Genome rearrangements underlie different human diseases including many cancers. Determining the rates at which genome rearrangements arise and isolating unique, independent genome rearrangements is critical to understanding the genes and pathways that prevent or promote genome rearrangements. Here, we describe quantitative S. cerevisiae genetic assays for measuring the rates of accumulating genome rearrangements including deletions, translocations, and broken chromosomes healed by de novo telomere addition that result in the deletion of two counter-selectable genes, CAN1 and URA3, placed in the nonessential regions of the S...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29041881/-age-related-changes-of-heart-rate-variability-at-various-insulin-sensitivity-and-telomere-length
#15
A S Boytsov, N O Tkachyeva, I L Streltsova, N E Dudinskaya, U D Akasheva, V E Plokhova, D I Strazhesko
AIM: To study relationship between age-associated changes of heart rate variability (HRV), telomere length (TL), and lowering of insulin sensitivity (IS). MATERIAL AND METHODS: We included in this study 229 individuals aged 23‒91 years without clinical manifestations of cardiovascular and other somatic diseases. In all participants, we analyzed HRV parameters obtained at 24-hour ECG monitoring (24-h ECG) and 5 minutes ECG recordings in the supine and standing positions...
July 2017: Kardiologiia
https://www.readbyqxmd.com/read/29040669/basic-domain-of-telomere-guardian-trf2-reduces-d-loop-unwinding-whereas-rap1-restores-it
#16
Ivona Necasová, Eliška Janoušková, Tomáš Klumpler, Ctirad Hofr
No abstract text is available yet for this article.
October 11, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28992625/b-chromosome-variants-of-the-grasshopper-xyleus-discoideus-angulatus-are-potentially-derived-from-pericentromeric-dna
#17
Andrezza C S Bernardino, Diogo C Cabral-de-Mello, Carolina B Machado, Octavio M Palacios-Gimenez, Neide Santos, Vilma Loreto
B chromosomes, extra elements present in the karyotypes of some eukaryote species, have been described in the grasshopper Xyleus discoideus angulatus. Although some studies have proposed an autosomal origin of the B chromosome in X. d. angulatus, little is known about its repetitive DNA composition and evolutionary dynamics. The aim of the present work was to shed light on the B chromosome evolution in X. d. angulatus by cytogenetic analysis of 27 populations from Pernambuco and Ceará states (Brazil). The frequency of B chromosomes in the different populations was determined, and chromosome measurements and fluorescence in situ hybridization (FISH) with C0t-DNA and telomeric and B chromosome sequences were performed in cells from B-carrying individuals...
October 10, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28986560/the-telomere-binding-protein-pot1-maintains-haematopoietic-stem-cell-activity-with-age
#18
Kentaro Hosokawa, Ben D MacArthur, Yoshiko Matsumoto Ikushima, Hirofumi Toyama, Yoshikazu Masuhiro, Shigemasa Hanazawa, Toshio Suda, Fumio Arai
Repeated cell divisions and aging impair stem cell function. However, the mechanisms by which this occurs are not fully understood. Here we show that protection of telomeres 1A (Pot1a), a component of the Shelterin complex that protects telomeres, improves haematopoietic stem cell (HSC) activity during aging. Pot1a is highly expressed in young HSCs, but declines with age. In mouse HSCs, Pot1a knockdown increases DNA damage response (DDR) and inhibits self-renewal. Conversely, Pot1a overexpression or treatment with POT1a protein prevents DDR, maintained self-renewal activity and rejuvenated aged HSCs upon ex vivo culture...
October 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28986099/downregulation-of-pin1-in-human-atherosclerosis-and-its-association-with-vascular-smooth-muscle-cell-senescence
#19
Lei Lv, Meng Ye, Rundan Duan, Kai Yuan, Jiaquan Chen, Wei Liang, Zhaoxiong Zhou, Lan Zhang
OBJECTIVE: Pin1 is prevalently overexpressed in human cancers and implicated to regulate cell growth and apoptosis. Thus far, however, no role for Pin1 has been described in modulating vascular smooth muscle cell (VSMC) senescence. METHODS: Immunohistochemistry and Western blotting were used to assess Pin1 protein level in human normal and atherosclerotic tissues. β-galactosidase staining, cumulative population doubling level, telomerase activity, and relative telomere length measurement were used to confirm VSMC senescence...
October 3, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28984046/inhibition-of-telomerase-activity-and-induction-of-apoptosis-by-rhodospirillum-rubrum-l-asparaginase-in-cancer-jurkat-cell-line-and-normal-human-cd4-%C3%A2-t-lymphocytes
#20
Dmitry D Zhdanov, Vadim S Pokrovsky, Marina V Pokrovskaya, Svetlana S Alexandrova, Mikhail A Eldarov, Dmitry V Grishin, Marsel M Basharov, Yulia A Gladilina, Olga V Podobed, Nikolai N Sokolov
Rhodospirillum rubrum L-asparaginase mutant E149R, V150P, F151T (RrA) down-regulates telomerase activity due to its ability to inhibit the expression of telomerase catalytic subunit hTERT. The aim of this study was to define the effect of short-term and long-term RrA exposure on proliferation of cancer Jurkat cell line and normal human CD4(+) T lymphocytes. RrA could inhibit telomerase activity in dose- and time-dependent manner in both Jurkat and normal CD4(+) T cells. Continuous RrA exposure of these cells resulted in shortening of telomeres followed by cell cycle inhibition, replicative senescence, and development of apoptosis...
November 2017: Cancer Medicine
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