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

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