Molecular pathology of rare progeroid diseases

被引：28

作者：

Rieckher, Matthias ^{[1
,2
]}

Garinis, George A. ^{[3
,4
]}

Schumacher, Bjorn

机构：

[1] Univ Cologne, Inst Genome Stabil Aging & Dis, Med Fac, Joseph Stelzmann Str 26, D-50931 Cologne, Germany

[2] Cologne Excellence Cluster Cellular Stress Respon, Joseph-Stelzmann Str 26, D-50931 Cologne, Germany

[3] Inst Mol Biol & Technol Hellas, GR-70013 Iraklion, Crete, Greece

[4] University of Crete, Dept Biol, Iraklion, Crete, Greece

来源：

TRENDS IN MOLECULAR MEDICINE | 2021年 / 27卷 / 09期

关键词：

NUCLEOTIDE EXCISION-REPAIR; DNA-DAMAGE RESPONSE; CAENORHABDITIS-ELEGANS; LIFE-SPAN; CANCER PREDISPOSITION; MOUSE MODEL; DYSKERATOSIS-CONGENITA; TELOMERE MAINTENANCE; CELLULAR SENESCENCE; MICE DEFICIENT;

D O I：

10.1016/j.molmed.2021.06.011

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Progeroid syndromes (PSs) are characterized by the premature onset of age related pathologies. The genetic mutations underlying PSs are functionally linked to genome maintenance and repair, supporting the causative role of DNA damage accumulation in aging. Recent advances from studies in animal models of PSs have provided new insight into the role of DNA repair mechanisms in human disease and the physiological adaptations to accumulating DNA damage during aging. The molecular pathology of PSs is reminiscent of the natural aging process, highlighting the relevance for a wide range of age-related diseases. Recent progress has led to the development of novel therapeutic strategies against age-related diseases that are relevant to rare diseases as well as the general aging population.

引用

页码：907 / 922

页数：16

共 114 条

[41] Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations [J].

Gonzalo, Susana ;

Kreienkamp, Ray ;

Askjaer, Peter .

AGEING RESEARCH REVIEWS, 2017, 33 :18-29

[42] The influence of heterochromatin on DNA double strand break repair: Getting the strong, silent type to relax [J].

Goodarzi, Aaron A. ;

Jeggo, Penny ;

Lobrich, Markus .

DNA REPAIR, 2010, 9 (12) :1273-1282

[43] Cellular Senescence: Defining a Path Forward [J].

Gorgoulis, Vassilis ;

Adams, Peter D. ;

Alimonti, Andrea ;

Bennett, Dorothy C. ;

Bischof, Oliver ;

Bishop, Cleo ;

Campisi, Judith ;

Collado, Manuel ;

Evangelou, Konstantinos ;

Ferbeyre, Gerardo ;

Gil, Jesus ;

Hara, Eiji ;

Krizhanovsky, Valery ;

Jurk, Diana ;

Maier, Andrea B. ;

Narita, Masashi ;

Niedernhofer, Laura ;

Passos, Joao F. ;

Robbins, Paul D. ;

Schmitt, Clemens A. ;

Sedivy, John ;

Vougas, Konstantinos ;

von Zglinicki, Thomas ;

Zhou, Daohong ;

Serrano, Manuel ;

Demaria, Marco .

CELL, 2019, 179 (04) :813-827

[44] Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage [J].

Goulielmaki, Evi ;

Ioannidou, Anna ;

Tsekrekou, Maria ;

Stratigi, Kalliopi ;

Poutakidou, Ioanna K. ;

Gkirtzimanaki, Katerina ;

Aivaliotis, Michalis ;

Evangelou, Konstantinos ;

Topalis, Pantelis ;

Altmueller, Janine ;

Gorgoulis, Vassilis G. ;

Chatzinikolaou, Georgia ;

Garinis, George A. .

NATURE COMMUNICATIONS, 2020, 11 (01)

[45] Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease [J].

Gregg, Siobhan Q. ;

Robinson, Andria Rasile ;

Niedernhofer, Laura J. .

DNA REPAIR, 2011, 10 (07) :781-791

[46] Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing [J].

Guilbert, Solenn M. ;

Cardoso, Deborah ;

Levy, Nicolas ;

Muchir, Antoine ;

Nissan, Xavier .

METHODS, 2021, 190 :3-12

[47] XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia [J].

Hoch, Nicolas C. ;

Hanzlikova, Hana ;

Rulten, Stuart L. ;

Tetreault, Martine ;

Komulainen, Emilia ;

Ju, Limei ;

Hornyak, Peter ;

Zeng, Zhihong ;

Gittens, William ;

Rey, Stephanie A. ;

Staras, Kevin ;

Mancini, Grazia M. S. ;

McKinnon, Peter J. ;

Wang, Zhao-Qi ;

Wagner, Justin D. ;

Yoon, Grace ;

Caldecott, Keith W. .

NATURE, 2017, 541 (7635) :87-+

[48] MOLECULAR ORIGINS OF CANCER DNA Damage, Aging, and Cancer [J].

Hoeijmakers, Jan H. J. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (15) :1475-1485

[49] Decreased mechanotransduction prevents nuclear collapse in a Caenorhabditis elegans laminopathy [J].

Huelgas-Morales, Gabriela ;

Sanders, Mark ;

Mekonnen, Gemechu ;

Tsukamoto, Tatsuya ;

Greenstein, David .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2020, 117 (49) :31301-31308

[50] Regulation of Cellular Senescence by Polycomb Chromatin Modifiers through Distinct DNA Damage-and Histone Methylation-Dependent Pathways [J].

Ito, Takahiro ;

Teo, Yee Voan ;

Evans, Shane A. ;

Neretti, Nicola ;

Sedivy, John M. .

CELL REPORTS, 2018, 22 (13) :3480-3492

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