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Progeria

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https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#1
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS...
December 5, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27907109/loss-of-h3k9me3-correlates-with-atm-activation-and-histone-h2ax-phosphorylation-deficiencies-in-hutchinson-gilford-progeria-syndrome
#2
Haoyue Zhang, Linlin Sun, Kun Wang, Di Wu, Mason Trappio, Celeste Witting, Kan Cao
Compelling evidence suggests that defective DNA damage response (DDR) plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS). Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3). In this study, we explore the potential connection(s) between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox), double strand breaks (DSBs) are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX) within an hour...
2016: PloS One
https://www.readbyqxmd.com/read/27875273/sirt2-regulates-nuclear-envelope-reassembly-via-ankle2-deacetylation
#3
Tanja Kaufmann, Eva Kukolj, Andreas Brachner, Etienne Beltzung, Melania Bruno, Sebastian Kostrhon, Susanne Opravil, Otto Hudecz, Karl Mechtler, Graham Warren, Dea Slade
Sirtuin 2 (SIRT2) is an NAD-dependent deacetylase known to regulate microtubule dynamics and cell cycle progression. SIRT2 has also been implicated in the pathology of cancer, neurodegenerative diseases and progeria. Here we show that SIRT2 depletion or overexpression causes nuclear envelope reassembly defects. We link this phenotype to the recently identified regulator of nuclear envelope reassembly ANKLE2. ANKLE2 acetylation at K302 and phosphorylation at S662 are dynamically regulated throughout the cell cycle by SIRT2 and are essential for normal nuclear envelope reassembly...
November 14, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27874871/mass-spectrometry-captures-off-target-drug-binding-and-provides-mechanistic-insights-into-the-human-metalloprotease-zmpste24
#4
Shahid Mehmood, Julien Marcoux, Joseph Gault, Andrew Quigley, Susan Michaelis, Stephen G Young, Elisabeth P Carpenter, Carol V Robinson
Off-target binding of hydrophobic drugs can lead to unwanted side effects, either through specific or non-specific binding to unintended membrane protein targets. However, distinguishing the binding of drugs to membrane proteins from that of detergents, lipids and cofactors is challenging. Here, we use high-resolution mass spectrometry to study the effects of HIV protease inhibitors on the human zinc metalloprotease ZMPSTE24. This intramembrane protease plays a major role in converting prelamin A to mature lamin A...
December 2016: Nature Chemistry
https://www.readbyqxmd.com/read/27871568/discrepancy-between-electroencephalography-and-hemodynamics-in-a-patient-with-cockayne-syndrome-during-general-anesthesia
#5
Masanori Tsukamoto, Takashi Hitosugi, Takeshi Yokoyama
Cockayne syndrome is a kind of progeria with autosomal chromosome recessiveness described first by Cockayne in 1936. Patients with this syndrome were characterized by retarded growth, cerebral atrophy, and mental retardation. We experienced an anesthetic management of a patient with Cockayne syndrome, who underwent dental treatment twice. The primary concern was discrepancy between electroencephalography and hemodynamics. The values of bispectral index showed a sharp fall to 1 digit and suppression ratio more than 40, while hemodynamics was stable during induction of anesthesia with sevoflurane 8%...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27859883/atomic-force-microscopy-and-lamins-a-review-study-towards-future-combined-investigations
#6
REVIEW
Ilaria Pecorari, Luca Puzzi, Orfeo Sbaizero
In the last decades, atomic force microscopy (AFM) underwent a rapid and stunning development, especially for studying mechanical properties of biological samples. The numerous discoveries relying to this approach, have increased the credit of AFM as a versatile tool, and potentially eligible as a diagnostic equipment. Meanwhile, it has become strikingly evident that lamins are involved on the onset and development of certain diseases, including cancer, Hutchinson-Gilford progeria syndrome, cardiovascular pathologies, and muscular dystrophy...
November 17, 2016: Microscopy Research and Technique
https://www.readbyqxmd.com/read/27803806/recent-advances-in-understanding-the-role-of-lamins-in-health-and-disease
#7
REVIEW
Sita Reddy, Lucio Comai
Lamins are major components of the nuclear lamina, a network of proteins that supports the nuclear envelope in metazoan cells. Over the past decade, biochemical studies have provided support for the view that lamins are not passive bystanders providing mechanical stability to the nucleus but play an active role in the organization of the genome and the function of fundamental nuclear processes. It has also become apparent that lamins are critical for human health, as a large number of mutations identified in the gene that encodes for A-type lamins are associated with tissue-specific and systemic genetic diseases, including the accelerated aging disorder known as Hutchinson-Gilford progeria syndrome...
2016: F1000Research
https://www.readbyqxmd.com/read/27799555/cardiac-electrical-defects-in-progeroid-mice-and-hutchinson-gilford-progeria-syndrome-patients-with-nuclear-lamina-alterations
#8
José Rivera-Torres, Conrado J Calvo, Anna Llach, Gabriela Guzmán-Martínez, Ricardo Caballero, Cristina González-Gómez, Luis J Jiménez-Borreguero, Juan A Guadix, Fernando G Osorio, Carlos López-Otín, Adela Herraiz-Martínez, Nuria Cabello, Alex Vallmitjana, Raul Benítez, Leslie B Gordon, José Jalife, José M Pérez-Pomares, Juan Tamargo, Eva Delpón, Leif Hove-Madsen, David Filgueiras-Rama, Vicente Andrés
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death. Prelamin A alterations also occur in physiological aging. It remains unknown how defective prelamin A processing affects the cardiac rhythm. We show age-dependent cardiac repolarization abnormalities in HGPS patients that are also present in the Zmpste24(-/-) mouse model of HGPS. Challenge of Zmpste24(-/-) mice with the β-adrenergic agonist isoproterenol did not trigger ventricular arrhythmia but caused bradycardia-related premature ventricular complexes and slow-rate polymorphic ventricular rhythms during recovery...
October 31, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27749465/anaesthesia-and-orphan-disease-hutchinson-gilford-progeria-syndrome-a-case-report-and-summary-of-previous-cases
#9
Sebastiaan J M Vreeswijk, Hedi L Claahsen, Wilfred A Borstlap, Mark P Hendriks
No abstract text is available yet for this article.
November 2016: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/27739443/a-high-throughput-phenotypic-screening-reveals-compounds-that-counteract-premature-osteogenic-differentiation-of-hgps-ips-derived-mesenchymal-stem-cells
#10
Alessandra Lo Cicero, Anne-Laure Jaskowiak, Anne-Laure Egesipe, Johana Tournois, Benjamin Brinon, Patricia R Pitrez, Lino Ferreira, Annachiara de Sandre-Giovannoli, Nicolas Levy, Xavier Nissan
Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced pluripotent stem cells (iPSC), HGPS iPSC-based modeling opens up the possibility of access to different relevant cell types for pharmacological approaches. In this study, 2800 small molecules were explored using high-throughput screening, looking for compounds that could potentially reduce the alkaline phosphatase activity of HGPS mesenchymal stem cells (MSCs) committed into osteogenic differentiation...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27734655/adult-progeria-werner-syndrome
#11
Nagappa Handargal, Jananee Muralidharan, P Praveen Sharma, M Narayanswamy, S Prabhu, R Priyashree, S G Jagadeesha
Werner's syndrome is an adult premature aging syndrome of autosomal recessive inheritance affecting connective tissues throughout the body.1 The exact etiology remains obscure even though biochemical and connective tissue abnormalities have been postulated.2 The disease involves multiple systems of the body and may be associated with internal malignancy.3 We report a case of a 35 year old man who presented with uncontrolled diabetes and non-healing ulcers.
April 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27677907/mechanics-in-human-fibroblasts-and-progeria-lamin-a-mutation-e145k-results-in-stiffening-of-nuclei
#12
Ketaki Apte, Reimer Stick, Manfred Radmacher
The lamina is a filamentous meshwork beneath the inner nuclear membrane that confers mechanical stability to nuclei. The E145K mutation in lamin A causes Hutchinson-Gilford progeria syndrome (HGPS). It affects lamin filament assembly and induces profound changes in the nuclear architecture. Expression of wild-type and E145K lamin A in Xenopus oocytes followed by atomic force microscopy (AFM) probing of isolated oocyte nuclei has shown significant changes in the mechanical properties of the lamina. Nuclei of oocytes expressing E145K lamin A are stiffer than those expressing wild-type lamin A...
September 28, 2016: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/27649756/recent-advances-in-animal-and-human-pluripotent-stem-cell-modeling-of-cardiac-laminopathy
#13
REVIEW
Yee-Ki Lee, Yu Jiang, Xin-Ru Ran, Yee-Man Lau, Kwong-Man Ng, Wing-Hon Kevin Lai, Chung-Wah Siu, Hung-Fat Tse
Laminopathy is a disease closely related to deficiency of the nuclear matrix protein lamin A/C or failure in prelamin A processing, and leads to accumulation of the misfold protein causing progeria. The resultant disrupted lamin function is highly associated with abnormal nuclear architecture, cell senescence, apoptosis, and unstable genome integrity. To date, the effects of loss in nuclear integrity on the susceptible organ, striated muscle, have been commonly associated with muscular dystrophy, dilated cardiac myopathy (DCM), and conduction defeats, but have not been studied intensively...
September 20, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27617860/interruption-of-progerin-lamin-a-c-binding-ameliorates-hutchinson-gilford-progeria-syndrome-phenotype
#14
Su-Jin Lee, Youn-Sang Jung, Min-Ho Yoon, So-Mi Kang, Ah-Young Oh, Jee-Hyun Lee, So-Young Jun, Tae-Gyun Woo, Ho-Young Chun, Sang Kyum Kim, Kyu Jin Chung, Ho-Young Lee, Kyeong Lee, Guanghai Jin, Min-Kyun Na, Nam Chul Ha, Clea Bárcena, José M P Freije, Carlos López-Otín, Gyu Yong Song, Bum-Joon Park
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant genetic disease that is caused by a silent mutation of the LMNA gene encoding lamins A and C (lamin A/C). The G608G mutation generates a more accessible splicing donor site than does WT and produces an alternatively spliced product of LMNA called progerin, which is also expressed in normal aged cells. In this study, we determined that progerin binds directly to lamin A/C and induces profound nuclear aberrations. Given this observation, we performed a random screening of a chemical library and identified 3 compounds (JH1, JH4, and JH13) that efficiently block progerin-lamin A/C binding...
October 3, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27567006/coronary-artery-stenting-in-a-patient-with-progeria
#15
Mieke Roggen, Christophe Dubois, Marc Gewillig
Progeria syndrome is a very rare disease with early demise in the second decade due to cardiovascular disease. Most events are sudden and fatal, leaving no time for medical or interventional therapies; no such interventional therapy has been reported. We present a 13 years old boy who previously had suffered from dissection of both internal carotid arteries; he now presented with exercise-induced angina. Both CT-scan and angiography revealed severe stenotic lesions at the origin of the right coronary artery and left anterior descending artery, typical for dissection...
August 27, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27507608/cockayne-syndrome-clinical-features-model-systems-and-pathways
#16
Ajoy C Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L Croteau, Vilhelm A Bohr
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP)...
August 6, 2016: Ageing Research Reviews
https://www.readbyqxmd.com/read/27498076/inhibition-of-late-sodium-current-attenuates-ionic-arrhythmia-mechanism-in-ventricular-myocytes-expressing-lamina-n195k-mutation
#17
Yogananda S Markandeya, Tadashi Tsubouchi, Timothy A Hacker, Matthew R Wolff, Luiz Belardinelli, Ravi C Balijepalli
BACKGROUND: Lamin A and C are nuclear filament proteins encoded by LMNA gene. Mutations in LMNA gene cause many congenital diseases known as laminopathies, including Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome and familial dilated cardiomyopathy (DCM) with conduction disease. A missense mutation (N195K) in the A-type lamins results in familial DCM and sudden arrhythmic death. OBJECTIVE: We investigated the ion current mechanism of arrhythmia and DCM caused by the LaminA-N195K variant...
August 3, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27482812/hallmarks-of-progeroid-syndromes-lessons-from-mice-and-reprogrammed-cells
#18
REVIEW
Dido Carrero, Clara Soria-Valles, Carlos López-Otín
Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid) syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing...
July 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27409638/antisense-based-progerin-downregulation-in-hgps-like-patients-cells
#19
Karim Harhouri, Claire Navarro, Camille Baquerre, Nathalie Da Silva, Catherine Bartoli, Frank Casey, Guedenon Koffi Mawuse, Yassamine Doubaj, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670), are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type Lamins. This mutation activates a cryptic splice site leading to the deletion of 50 amino acids at its carboxy-terminal domain, resulting in a truncated and permanently farnesylated Prelamin A called Prelamin A Δ50 or Progerin. Some patients carry other LMNA mutations affecting exon 11 splicing and are named "HGPS-like" patients...
2016: Cells
https://www.readbyqxmd.com/read/27400897/seeking-a-cure-for-one-of-the-rarest-diseases-progeria
#20
EDITORIAL
Francis S Collins
No abstract text is available yet for this article.
July 12, 2016: Circulation
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