keyword
MENU ▼
Read by QxMD icon Read
search

Progeria

keyword
https://www.readbyqxmd.com/read/29466729/a-cell-intrinsic-interferon-like-response-links-replication-stress-to-cellular-aging-caused-by-progerin
#1
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/29466548/left-ventricular-diastolic-dysfunction-in-hutchinson-gilford-progeria-syndrome
#2
Diane Fatkin
No abstract text is available yet for this article.
February 21, 2018: JAMA Cardiology
https://www.readbyqxmd.com/read/29466530/cardiac-abnormalities-in-patients-with-hutchinson-gilford-progeria-syndrome
#3
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...
February 21, 2018: JAMA Cardiology
https://www.readbyqxmd.com/read/29449671/identification-of-juvenility-associated-genes-in-the-mouse-hepatocytes-and-cardiomyocytes
#4
Faidruz Azura Jam, Yosuke Kadota, Anarmaa Mendsaikhan, Ikuo Tooyama, Masaki Mori
Young individuals possess distinct properties that adults do not. The juvenile animals show higher activities for growth, healing, learning and plasticity than adults. The machinery for establishing these juvenile properties is not fully understood. To better understand the molecular constituents for the above properties, we performed a comprehensive transcriptome analysis of differently aged cells of mice by high-throughput sequencing and identified the genes selectively highly expressed in the young cells...
February 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29439159/dual-role-for-lap2%C3%AE-in-progeria-cell-proliferation
#5
(no author information available yet)
No abstract text is available yet for this article.
February 8, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29429991/p53-isoforms-regulate-premature-aging-in-human-cells
#6
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
#7
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...
February 5, 2018: Aging Cell
https://www.readbyqxmd.com/read/29377371/progeria-case-report-and-new-drugs-perspectives
#8
Aline Guimarães Grana, Aline do Amaral Silva, Francisco Ronaldo Moura Filho, Raquel Rodrigues Ferreira Rocha de Alencar, Patrícia Chicre Bandeira de Melo
Hutchinson-Gilford progeria syndrome (HGPS) is one of the rarest human diseases, an autosomal dominant premature aging disorder 1 . Its incidence is 1-4 per 8 million newborns 2 . There are aging-associated symptoms, including lack of subcutaneous fat, hair loss, joint contractures, progressive cardiovascular disease resembling atherosclerosis, and death due to heart attacks and strokes in childhood. This article is protected by copyright. All rights reserved.
January 29, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29361532/nucleoplasmic-lamins-define-growth-regulating-functions-of-lamina-associated-polypeptide-2%C3%AE-in-progeria-cells
#9
Sandra Vidak, Konstantina Georgiou, Petra Fichtinger, Nana Naetar, Thomas Dechat, Roland Foisner
A-type lamins are components of the peripheral nuclear lamina but localize also in the nuclear interior in a complex with lamina-associated polypeptide (LAP) 2α. Loss of LAP2α and nucleoplasmic lamins in wild-type cells increases cell proliferation, but in cells expressing progerin, a mutant lamin A that causes Hutchinson-Gilford Progeria syndrome, low LAP2α levels result in proliferation defects. Here we aimed at understanding the molecular mechanism how the relative levels of LAP2α, progerin, and nucleoplasmic lamins affect cell proliferation...
December 28, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29342140/atomic-structure-of-the-eukaryotic-intramembrane-ras-methyltransferase-icmt
#10
Melinda M Diver, Leanne Pedi, Akiko Koide, Shohei Koide, Stephen B Long
The maturation of RAS GTPases and approximately 200 other cellular CAAX proteins involves three enzymatic steps: addition of a farnesyl or geranylgeranyl prenyl lipid to the cysteine (C) in the C-terminal CAAX motif, proteolytic cleavage of the AAX residues and methylation of the exposed prenylcysteine residue at its terminal carboxylate. This final step is catalysed by isoprenylcysteine carboxyl methyltransferase (ICMT), a eukaryote-specific integral membrane enzyme that resides in the endoplasmic reticulum...
January 17, 2018: Nature
https://www.readbyqxmd.com/read/29342131/survey-of-plasma-proteins-in-children-with-progeria-pre-therapy-and-on-therapy-with-lonafarnib
#11
Leslie B Gordon, Susan E Campbell, Joseph M Massaro, Ralph B D'Agostino, Monica E Kleinman, Mark W Kieran, Marsha A Moses
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin. The protein farnesyltransferase inhibitor, lonafarnib, ameliorates some aspects of cardiovascular and bone disease. STUDY DESIGN: We performed a prospective longitudinal survey of plasma proteins in 24 children with HGPS (an estimated 10% of the world's population at the time) at baseline and on lonafarnib therapy, compared to age and gender-matched controls using a multi-analyte, microsphere-based immune-fluorescent assay...
January 17, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29341437/phenotypic-heterogeneity-of-zmpste24-deficiency
#12
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29290100/circulating-levels-of-monocyte-chemoattractant-protein-1-as-a-potential-measure-of-biological-age-in-mice-and-frailty-in-humans
#13
Matthew J Yousefzadeh, Marissa J Schafer, Nicole Noren Hooten, Elizabeth J Atkinson, Michele K Evans, Darren J Baker, Ellen K Quarles, Paul D Robbins, Warren C Ladiges, Nathan K LeBrasseur, Laura J Niedernhofer
A serum biomarker of biological versus chronological age would have significant impact on clinical care. It could be used to identify individuals at risk of early-onset frailty or the multimorbidities associated with old age. It may also serve as a surrogate endpoint in clinical trials targeting mechanisms of aging. Here, we identified MCP-1/CCL2, a chemokine responsible for recruiting monocytes, as a potential biomarker of biological age. Circulating monocyte chemoattractant protein-1 (MCP-1) levels increased in an age-dependent manner in wild-type (WT) mice...
December 31, 2017: Aging Cell
https://www.readbyqxmd.com/read/29258958/pubertal-progression-in-adolescent-females-with-progeria
#14
Maya Mundkur Greer, Monica E Kleinman, Leslie B Gordon, Joe Massaro, Ralph B D'Agostino, Kristin Baltrusaitis, Mark W Kieran, Catherine M Gordon
No abstract text is available yet for this article.
December 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29227210/separate-roles-for-chromatin-and-lamins-in-nuclear-mechanics
#15
Andrew D Stephens, Edward J Banigan, John F Marko
The cell nucleus houses, protects, and arranges the genome within the cell. Therefore, nuclear mechanics and morphology are important for dictating gene regulation, and these properties are perturbed in many human diseases, such as cancers and progerias. The field of nuclear mechanics has long been dominated by studies of the nuclear lamina, the intermediate filament shell residing just beneath the nuclear membrane. However, a growing body of work shows that chromatin and chromatin-related factors within the nucleus are an essential part of the mechanical response of the cell nucleus to forces...
December 11, 2017: Nucleus
https://www.readbyqxmd.com/read/29226142/computational-exploration-for-lead-compounds-that-can-reverse-the-nuclear-morphology-in-progeria
#16
Shailima Rampogu, Ayoung Baek, Minky Son, Amir Zeb, Chanin Park, Raj Kumar, Gihwan Lee, Donghwan Kim, Yeonuk Choi, Yeongrae Cho, Yohan Park, Seok Ju Park, Keun Woo Lee
Progeria is a rare genetic disorder characterized by premature aging that eventually leads to death and is noticed globally. Despite alarming conditions, this disease lacks effective medications; however, the farnesyltransferase inhibitors (FTIs) are a hope in the dark. Therefore, the objective of the present article is to identify new compounds from the databases employing pharmacophore based virtual screening. Utilizing nine training set compounds along with lonafarnib, a common feature pharmacophore was constructed consisting of four features...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29196523/dna-replication-timing-alterations-identify-common-markers-between-distinct-progeroid-diseases
#17
Juan Carlos Rivera-Mulia, Romain Desprat, Claudia Trevilla-Garcia, Daniela Cornacchia, Hélène Schwerer, Takayo Sasaki, Jiao Sima, Tyler Fells, Lorenz Studer, Jean-Marc Lemaitre, David M Gilbert
Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic feature highly conserved in the same cell types from different individuals but altered in disease. Here, we characterized DNA RT program alterations in Hutchinson-Gilford progeria syndrome (HGPS) and Rothmund-Thomson syndrome (RTS) patients compared with natural aging and cellular senescence...
December 1, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29150992/accelerated-aging-and-aging-process-in-the-brain
#18
Nickolay K Isaev, Elisaveta E Genrikhs, Maria V Oborina, Elena V Stelmashook
One of the approaches to the research of the problem of aging is the study of genetic pathologies leading to accelerated aging, such as the Hutchinson-Gilford progeria syndrome, Werner syndrome, and Down syndrome. Probably, this approach can be used in an attempt to understand the neuronal mechanisms underlying normal and pathological brain aging. The analysis of the current state of scientific knowledge about these pathologies shows that in the Hutchinson-Gilford progeria and Werner syndrome, the rate of brain aging is significantly lower than the rate of whole body aging, whereas in Down syndrome, the brain ages faster than other organs due to amyloid-beta accumulation and chronic oxidative stress in the brain tissue...
November 18, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29149836/are-there-different-kinds-of-aging
#19
Amalia Gabriela Diaconeasa
A critical analysis of the accelerated aging syndromes may explain what aging is, but also why some tissues and organs age at accelerated rates in comparison with aging rates of other tissues. Syndromes of accelerated aging are caused by mutations affecting the integrity of the genetic material. Among them, the most studied is Werner's syndrome, "adult progeria", caused by a recessive autosomal mutation with a frequency of 1 in 10 millions, which affects a helicase involved in DNA repair. In Werner syndrome, there is a loss of heterochromatin, though the stability of heterochromatin is also affected in "normal" aging...
November 16, 2017: Current Aging Science
https://www.readbyqxmd.com/read/29149195/age-of-heart-disease-presentation-and-dysmorphic-nuclei-in-patients-with-lmna-mutations
#20
Jason Q Core, Mehrsa Mehrabi, Zachery R Robinson, Alexander R Ochs, Linda A McCarthy, Michael V Zaragoza, Anna Grosberg
Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes...
2017: PloS One
keyword
keyword
782
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"