LMNA Mutations in Progeroid Syndromes

2008 ◽  
pp. 197-207 ◽  
Author(s):  
Shurong Huang ◽  
Brian K. Kennedy ◽  
Junko Oshima
Keyword(s):  
Progeroid Syndromes

scholarly journals Lack of resemblance between Myhre syndrome and other “segmental progeroid” syndromes warrants restraint in applying this classification

GeroScience ◽  
2021 ◽  
Author(s):  
Angela E. Lin ◽  
◽  
Nicola Brunetti-Pierri ◽  
Bert Callewaert ◽  
Valérie Cormier-Daire ◽  
...  
Keyword(s):  
Progeroid Syndromes ◽  
Myhre Syndrome

scholarly journals New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

2013 ◽  
Vol 22 (8) ◽  
pp. 1002-1011 ◽  
Author(s):  
Claire Laure Navarro ◽  
Vera Esteves-Vieira ◽  
Sébastien Courrier ◽  
Amandine Boyer ◽  
Thuy Duong Nguyen ◽  
...  
Keyword(s):  
Progeroid Syndromes ◽  
Restrictive Dermopathy

scholarly journals DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A

2006 ◽  
Vol 119 (22) ◽  
pp. 4644-4649 ◽  
Author(s):  
Y. Liu ◽  
A. Rusinol ◽  
M. Sinensky ◽  
Y. Wang ◽  
Y. Zou
Keyword(s):  
Dna Damage ◽  
Prelamin A ◽  
Progeroid Syndromes ◽  
Dna Damage Responses

scholarly journals Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

2009 ◽  
Vol 9 ◽  
pp. 1449-1462 ◽  
Author(s):  
Baomin Li ◽  
Sonali Jog ◽  
Jose Candelario ◽  
Sita Reddy ◽  
Lucio Comai
Keyword(s):  
Werner Syndrome ◽  
Accelerated Aging ◽  
Natural Aging ◽  
Aging Research ◽  
Cellular Processes ◽  
Functional Connections ◽  
Age Related ◽  
Progeroid Syndromes ◽  
Progeria Syndrome ◽  
Hutchinson Gilford Progeria Syndrome

Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent findings on the molecular basis of two progeroid diseases, Werner syndrome (WS) and Hutchinson-Gilford progeria syndrome (HGPS), and highlight functional connections to cellular processes that may contribute to normal aging.

scholarly journals Shared Phenotypes Among Segmental Progeroid Syndromes Suggest Underlying Pathways of Aging

2005 ◽  
Vol 60 (1) ◽  
pp. 10-20 ◽  
Author(s):  
A. C. Hofer ◽  
R. T. Tran ◽  
O. Z. Aziz ◽  
W. Wright ◽  
G. Novelli ◽  
...  
Keyword(s):  
Progeroid Syndromes

scholarly journals RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting

2018 ◽  
Vol 173 ◽  
pp. 80-83 ◽  
Author(s):  
Junko Oshima ◽  
Hisaya Kato ◽  
Yoshiro Maezawa ◽  
Koutaro Yokote
Keyword(s):  
Recq Helicase ◽  
Progeroid Syndromes

scholarly journals EPIGENETIC PROFILES OF BIOLOGICAL AGING HALLMARKS

2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S424-S424
Author(s):  
Diana L Leung ◽  
Zuyun Liu ◽  
Morgan E Levine
Keyword(s):  
Aging Process ◽  
Strong Association ◽  
Cpg Islands ◽  
Biological Aging ◽  
Epigenetic Alterations ◽  
Chronological Aging ◽  
Progeroid Syndromes ◽  
Progeria Syndrome ◽  
Hutchinson Gilford Progeria Syndrome ◽  
Weighted Network Analysis

Abstract Investigation into the hallmarks of aging point to the existence of shared mechanisms that underlie the biological aging process. While there is a general consensus that hallmarks of aging rarely occur in isolation, little is known in regards to their overlapping networks or how interactions contribute to manifestations at the clinical level. Here, we examine whether shared epigenetic alterations—one of the proposed hallmark of aging—underlies diverse conditions characterized by other hallmarks, including cellular senescence, loss of proteostasis, genomic instability, mitochondrial dysfunction, and inflammation. Using weighted network analysis, we identified consistent overlaps in the methylation profiles across the different traits. For instance, epigenetic modules that were distinct in senescence were also affected in progeroid syndromes (Hutchinson-Gilford Progeria Syndrome and Werner’s Syndrome) and smokers. These CpGs tended to be located in CpG islands, which are notable for their strong association with transcriptional regulation. Overall, our results suggest that epigenetic alterations intersect with various hallmarks of aging. In moving forward, incorporation of this understanding may lead to the development of biomarkers that better capture the biological (rather than chronological) aging process.

scholarly journals DNA damage responses in ageing

Open Biology ◽  
2019 ◽  
Vol 9 (11) ◽  
pp. 190168 ◽  
Author(s):  
Paulo F. L. da Silva ◽  
Björn Schumacher
Keyword(s):  
Dna Damage ◽  
Stress Response ◽  
Cellular Senescence ◽  
Damage Accumulation ◽  
Genome Instability ◽  
Age Related ◽  
Progeroid Syndromes ◽  
Dna Damage Responses ◽  
Universal Feature

Ageing appears to be a nearly universal feature of life, ranging from unicellular microorganisms to humans. Longevity depends on the maintenance of cellular functionality, and an organism's ability to respond to stress has been linked to functional maintenance and longevity. Stress response pathways might indeed become therapeutic targets of therapies aimed at extending the healthy lifespan. Various progeroid syndromes have been linked to genome instability, indicating an important causal role of DNA damage accumulation in the ageing process and the development of age-related pathologies. Recently, non-cell-autonomous mechanisms including the systemic consequences of cellular senescence have been implicated in regulating organismal ageing. We discuss here the role of cellular and systemic mechanisms of ageing and their role in ageing-associated diseases.

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