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https://www.readbyqxmd.com/read/29710166/association-of-lonafarnib-treatment-vs-no-treatment-with-mortality-rate-in-patients-with-hutchinson-gilford-progeria-syndrome
#1
COMPARATIVE STUDY
Leslie B Gordon, Heather Shappell, Joe Massaro, Ralph B D'Agostino, Joan Brazier, Susan E Campbell, Monica E Kleinman, Mark W Kieran
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal premature aging disease. There is no approved treatment. Objective: To evaluate the association of monotherapy using the protein farnesyltransferase inhibitor lonafarnib with mortality rate in children with HGPS. Design, Setting, and Participants: Cohort study comparing contemporaneous (birth date ≥1991) untreated patients with HGPS matched with treated patients by age, sex, and continent of residency using conditional Cox proportional hazards regression...
April 24, 2018: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/29703891/targeting-of-nat10-enhances-healthspan-in-a-mouse-model-of-human-accelerated-aging-syndrome
#2
Gabriel Balmus, Delphine Larrieu, Ana C Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J Geisler, Christopher J Lelliott, Jacqueline K White, Natasha A Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, David J Adams, Stephen P Jackson
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death. Cells from HGPS patients accumulate progerin, a permanently farnesylated, toxic form of Lamin A, disrupting the nuclear shape and chromatin organization, leading to DNA-damage accumulation and senescence. Therapeutic approaches targeting farnesylation or aiming to reduce progerin levels have provided only partial health improvements...
April 27, 2018: Nature Communications
https://www.readbyqxmd.com/read/29702688/upregulation-of-the-aging-related-lmna-splice-variant-progerin-in-dilated-cardiomyopathy
#3
Moritz Messner, Santhosh Kumar Ghadge, Valentina Goetsch, Andreas Wimmer, Jakob Dörler, Gerhard Pölzl, Marc-Michael Zaruba
BACKGROUND: Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide. The premature aging disease Hutchinson-Gilford syndrome (HGPS) is also caused by defined mutations in the LMNA gene resulting in activation of a cryptic splice donor site leading to a defective truncated prelamin A protein called progerin. Low levels of progerin are expressed in healthy individuals associated with ageing. Here, we aimed to address the role of progerin in dilated cardiomyopathy...
2018: PloS One
https://www.readbyqxmd.com/read/29696758/micrornas-in-hereditary-and-sporadic-premature-aging-syndromes-and-other-laminopathies
#4
REVIEW
Diane Frankel, Valérie Delecourt, Karim Harhouri, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Elise Kaspi, Patrice Roll
Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified as tissue-specific or systemic diseases. The latter mostly manifest with several accelerated aging features, as in Hutchinson-Gilford progeria syndrome (HGPS) and other progeroid syndromes. MicroRNAs are small noncoding RNAs described as powerful regulators of gene expression, mainly by degrading target mRNAs or by inhibiting their translation...
April 25, 2018: Aging Cell
https://www.readbyqxmd.com/read/29619863/an-overview-of-treatment-strategies-for-hutchinson-gilford-progeria-syndrome
#5
Karim Harhouri, Diane Frankel, Catherine Bartoli, Patrice Roll, Annachiara De Sandre-Giovannoli, Nicolas Lévy
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to cardiovascular complications. HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C which are structural components of the nuclear lamina. This mutation leads to the production of a truncated toxic form of lamin A, issued from aberrant splicing and called progerin...
April 5, 2018: Nucleus
https://www.readbyqxmd.com/read/29602596/mechanisms-of-vascular-aging-what-can-we-learn-from-hutchinson-gilford-progeria-syndrome
#6
Lara Del Campo, Magda R Hamczyk, Vicente Andrés, José Martínez-González, Cristina Rodríguez
Aging is the main risk factor for cardiovascular disease (CVD). The increased prevalence of CVD is partly due to the global increase in life expectancy. In this context, it is essential to identify the mechanisms by which aging induces CVD, with the ultimate aim of reducing its incidence. Both atherosclerosis and heart failure significantly contribute to age-associated CVD morbidity and mortality. Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by the synthesis of progerin, which is noted for accelerated aging and CVD...
March 27, 2018: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/29581305/everolimus-rescues-multiple-cellular-defects-in-laminopathy-patient-fibroblasts
#7
Amanda J DuBose, Stephen T Lichtenstein, Noreen M Petrash, Michael R Erdos, Leslie B Gordon, Francis S Collins
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29567411/abnormal-nuclear-morphology-is-independent-of-longevity-in-a-zmpste24-deficient-fish-model-of-hutchinson-gilford-progeria-syndrome-hgps
#8
Yasuhiro Tonoyama, Minori Shinya, Atsushi Toyoda, Takeshi Kitano, Atsunori Oga, Toshiyuki Nishimaki, Takafumi Katsumura, Hiroki Oota, Miles T Wan, Bill W P Yip, Mok O L Helen, Shinichi Chisada, Tomonori Deguchi, Doris W T Au, Kiyoshi Naruse, Yasuhiro Kamei, Yoshihito Taniguchi
Lamin is an intermediate protein underlying the nuclear envelope and it plays a key role in maintaining the integrity of the nucleus. A defect in the processing of its precursor by a metalloprotease, ZMPSTE24, results in the accumulation of farnesylated prelamin in the nucleus and causes various diseases, including Hutchinson-Gilford progeria syndrome (HGPS). However, the role of lamin processing is unclear in fish species. Here, we generated zmpste24-deficient medaka and evaluated their phenotype. Unlike humans and mice, homozygous mutants did not show growth defects or lifespan shortening, despite lamin precursor accumulation...
March 19, 2018: Comparative Biochemistry and Physiology. Toxicology & Pharmacology: CBP
https://www.readbyqxmd.com/read/29531324/differential-histopathologic-parameters-in-colorectal-cancer-liver-metastases-resected-after-triplets-plus-bevacizumab-or-cetuximab-a-pooled-analysis-of-five-prospective-trials
#9
Chiara Cremolini, Massimo Milione, Federica Marmorino, Federica Morano, Gemma Zucchelli, Alessia Mennitto, Michele Prisciandaro, Sara Lonardi, Alessio Pellegrinelli, Daniele Rossini, Francesca Bergamo, Giuseppe Aprile, Lucio Urbani, Luca Morelli, Marta Schirripa, Giovanni Gerardo Cardellino, Matteo Fassan, Gabriella Fontanini, Filippo de Braud, Vincenzo Mazzaferro, Alfredo Falcone, Filippo Pietrantonio
BACKGROUND: Many factors, including histopathologic parameters, seem to influence the prognosis of patients undergoing resection of colorectal cancer liver metastases (CRCLM), although their relative weight is unclear. Histopathologic growth patterns (HGPs) of CRCLM may affect sensitivity to antiangiogenics. We aimed at evaluating differences in histopathologic parameters of response according to the use of bevacizumab or cetuximab as first-line targeted agents, and at exploring the prognostic and predictive role of HGPs...
April 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29520806/microbiome-at-sites-of-gingival-recession-in-children-with-hutchinson-gilford-progeria-syndrome
#10
Seyed Hossein Bassir, Isabelle Chase, Bruce J Paster, Leslie B Gordon, Monica E Kleinman, Mark W Kieran, David M Kim, Andrew Sonis
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder with significant oral and dental abnormalities. Clinical symptoms include various features of accelerated aging such as alopecia, loss of subcutaneous fat, bone abnormalities, and premature cardiovascular disease. In addition, children with HGPS have been observed to suffer from generalized gingival recession. Whether periodontal manifestations associated with this syndrome are the results of changes in the oral flora is unknown...
February 19, 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29490993/vascular-smooth-muscle-specific-progerin-expression-accelerates-atherosclerosis-and-death-in-a-mouse-model-of-hutchinson-gilford-progeria-syndrome
#11
Magda R Hamczyk, Ricardo Villa-Bellosta, Pilar Gonzalo, María J Andrés-Manzano, Paula Nogales, Jacob F Bentzon, Carlos López-Otín, Vicente Andrés
Background -Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). HGPS patients with ubiquitous progerin expression exhibit accelerated aging and atherosclerosis, and die in their early teens mainly from myocardial infarction or stroke. The mechanisms underlying progerin-induced atherosclerosis remain unexplored, in part due to the lack of appropriate animal models. Methods -We generated an atherosclerosis-prone model of HGPS by crossing apolipoprotein E-deficient ( Apoe-/- ) mice with LmnaG609G/G609G mice ubiquitously expressing progerin...
February 28, 2018: Circulation
https://www.readbyqxmd.com/read/29477864/an-endocrine-disrupting-agricultural-contaminant-impacts-sequential-female-mate-choice-in-fish
#12
Patrick Tomkins, Minna Saaristo, Michael G Bertram, Marcus Michelangeli, Raymond B Tomkins, Bob B M Wong
The environmental impact of endocrine-disrupting chemicals (EDCs)-compounds that interfere with endocrine system function at minute concentrations-is now well established. In recent years, concern has been mounting over a group of endocrine disruptors known as hormonal growth promotants (HGPs), which are natural and synthetic chemicals used to promote growth in livestock by targeting the endocrine system. One of the most potent compounds to enter the environment as a result of HGP use is 17β-trenbolone, which has repeatedly been detected in aquatic habitats...
June 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29476423/differential-stem-cell-aging-kinetics-in-hutchinson-gilford-progeria-syndrome-and-werner-syndrome
#13
Zeming Wu, Weiqi Zhang, Moshi Song, Wei Wang, Gang Wei, Wei Li, Jinghui Lei, Yu Huang, Yanmei Sang, Piu Chan, Chang Chen, Jing Qu, Keiichiro Suzuki, Juan Carlos Izpisua Belmonte, Guang-Hui Liu
Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin. WS is caused by mutations in WRN gene, encoding a loss-of-function RecQ DNA helicase. Here, by gene editing we created isogenic human embryonic stem cells (ESCs) with heterozygous (G608G/+) or homozygous (G608G/G608G) LMNA mutation and biallelic WRN knockout, for modeling HGPS and WS pathogenesis, respectively...
April 2018: Protein & Cell
https://www.readbyqxmd.com/read/29474864/a-crucial-role-of-rock-for-alleviation-of-senescence-associated-phenotype
#14
Joon Tae Park, Hyun Tae Kang, Chi Hyun Park, Young-Sam Lee, Kyung A Cho, Sang Chul Park
In our previous study, we uncovered a novel mechanism in which amelioration of Hutchinson-Gilford progeria syndrome (HGPS) phenotype is mediated by mitochondrial functional recovery upon rho-associated protein kinase (ROCK) inhibition. However, it remains elusive whether this mechanism is also applied to the amelioration of normal aging cells. In this study, we used Y-27632 and fasudil as effective ROCK inhibitors, and examined their role in senescence. We found that ROCK inhibition induced the functional recovery of the mitochondria as well as the metabolic reprogramming, which are two salient features that are altered in normal aging cells...
June 2018: Experimental Gerontology
https://www.readbyqxmd.com/read/29466729/a-cell-intrinsic-interferon-like-response-links-replication-stress-to-cellular-aging-caused-by-progerin
#15
Ray Kreienkamp, Simona Graziano, Nuria Coll-Bonfill, Gonzalo Bedia-Diaz, Emily Cybulla, Alessandro Vindigni, Dale Dorsett, Nard Kubben, Luis Francisco Zirnberger Batista, Susana Gonzalo
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline. HGPS patient-derived fibroblasts accumulate genomic instability, but its underlying mechanisms and contribution to disease remain poorly understood. Here, we show that progerin-induced replication stress (RS) drives genomic instability by eliciting replication fork (RF) stalling and nuclease-mediated degradation. Rampant RS is accompanied by upregulation of the cGAS/STING cytosolic DNA sensing pathway and activation of a robust STAT1-regulated interferon (IFN)-like response...
February 20, 2018: Cell Reports
https://www.readbyqxmd.com/read/29466530/cardiac-abnormalities-in-patients-with-hutchinson-gilford-progeria-syndrome
#16
Ashwin Prakash, Leslie B Gordon, Monica E Kleinman, Ellen B Gurary, Joseph Massaro, Ralph D'Agostino, Mark W Kieran, Marie Gerhard-Herman, Leslie Smoot
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare disorder associated with premature death due to cardiovascular events during the second decade of life. However, because of its rarity (107 identified living patients), the natural history of cardiac disease remains uncharacterized. Therefore, meaningful cardiac end points for clinical trials have been difficult to establish. Objective: To examine the course of appearance of cardiac abnormalities in patients with HGPS to identify meaningful cardiac end points for use in future clinical trials...
April 1, 2018: JAMA Cardiology
https://www.readbyqxmd.com/read/29429991/p53-isoforms-regulate-premature-aging-in-human-cells
#17
Natalia von Muhlinen, Izumi Horikawa, Fatima Alam, Kazunobu Isogaya, Delphine Lissa, Borek Vojtesek, David P Lane, Curtis C Harris
Cellular senescence is a hallmark of normal aging and aging-related syndromes, including the premature aging disorder Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder caused by a single mutation in the LMNA gene that results in the constitutive expression of a truncated splicing mutant of lamin A known as progerin. Progerin accumulation leads to increased cellular stresses including unrepaired DNA damage, activation of the p53 signaling pathway and accelerated senescence. We previously established that the p53 isoforms ∆133p53 and p53β regulate senescence in normal human cells...
February 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29405587/smurf2-regulates-stability-and-the-autophagic-lysosomal-turnover-of-lamin-a-and-its-disease-associated-form-progerin
#18
Aurora Paola Borroni, Andrea Emanuelli, Pooja Anil Shah, Nataša Ilić, Liat Apel-Sarid, Biagio Paolini, Dhanoop Manikoth Ayyathan, Praveen Koganti, Gal Levy-Cohen, Michael Blank
A-lamins, encoded by the LMNA gene, are major structural components of the nuclear lamina coordinating essential cellular processes. Mutations in the LMNA gene and/or alterations in its expression levels have been linked to a distinct subset of human disorders, collectively known as laminopathies, and to cancer. Mechanisms regulating A-lamins are mostly obscure. Here, we identified E3 ubiquitin ligase Smurf2 as a physiological regulator of lamin A and its disease-associated mutant form progerin (LAΔ50), whose expression underlies the development of Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging syndrome...
April 2018: Aging Cell
https://www.readbyqxmd.com/read/29377371/progeria-case-report-and-new-drugs-perspectives
#19
LETTER
A G Grana, A A Silva, F R Moura Filho, R Rodrigues Ferreira Rocha de Alencar, P Chicre Bandeira de Melo
No abstract text is available yet for this article.
January 29, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29355613/histopathological-growth-patterns-as-a-candidate-biomarker-for-immunomodulatory-therapy
#20
REVIEW
Pieter-Jan van Dam, Sofie Daelemans, Elizabeth Ross, Yannick Waumans, Steven Van Laere, Emily Latacz, Roanne Van Steen, Christel De Pooter, Mark Kockx, Luc Dirix, Peter B Vermeulen
The encroachment of a growing tumor upon the cells and structures of surrounding normal tissue results in a series of histopathological growth patterns (HGPs). These morphological changes can be assessed in hematoxylin-and-eosin (H&E) stained tissue sections from primary and metastatic tumors and have been characterized in a range of tissue types including liver, lung, lymph node and skin. HGPs in different tissues share certain general characteristics like the extent of angiogenesis, but also appropriate tissue-specific mechanisms which ultimately determine differences in the biology of HGP subtypes...
January 26, 2018: Seminars in Cancer Biology
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