Beyond DNA repair and chromosome instability-Fanconi anaemia as a cellular senescence-associated syndrome.
Beyond DNA repair and chromosome instability-Fanconi anaemia as a cellular senescence-associated syndrome.
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DOI：
10.1038/s41418-021-00764-5
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发表时间：
2021-04
影响因子：
12.4
通讯作者：
Rosselli F
中科院分区：
文献类型：
--
作者：
Helbling-Leclerc A;Garcin C;Rosselli F
范可尼贫血（Fanconi anaemia，FA）是最常见的遗传性骨髓衰竭综合征，是由于编码复制叉保护、DNA链间交联修复和通过诱导双链断裂修复和同源重组进行复制拯救的蛋白质的基因突变所致。临床上，FA的特征是再生障碍性贫血、先天性缺陷和癌症易感性。在体外研究中，FA细胞呈现出定义衰老细胞的标志，包括p53-p21轴激活、端粒长度改变、线粒体功能障碍、染色质改变和促炎状态。衰老是导致增殖停滞的程序，其涉及不同的生理环境，例如胚胎发生、组织重塑和修复，并保证肿瘤抑制活性。然而，衰老可能成为发育异常、衰老和癌症的驱动力。在此，我们总结了该领域的现有知识，以突出FA和衰老之间的相互关系，使我们认为FA不仅是DNA修复和染色体脆性综合征，而且是一种“衰老综合征”。
Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to mutations in genes encoding proteins involved in replication fork protection, DNA interstrand crosslink repair and replication rescue through inducing double-strand break repair and homologous recombination. Clinically, FA is characterised by aplastic anaemia, congenital defects and cancer predisposition. In in vitro studies, FA cells presented hallmarks defining senescent cells, including p53-p21 axis activation, altered telomere length, mitochondrial dysfunction, chromatin alterations, and a pro-inflammatory status. Senescence is a programme leading to proliferation arrest that is involved in different physiological contexts, such as embryogenesis, tissue remodelling and repair and guarantees tumour suppression activity. However, senescence can become a driving force for developmental abnormalities, aging and cancer. Herein, we summarise the current knowledge in the field to highlight the mutual relationships between FA and senescence that lead us to consider FA not only as a DNA repair and chromosome fragility syndrome but also as a “senescence syndrome”.
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影响因子：
64.8
作者：
Bartkova, Jirina;Rezaei, Nousin;Gorgoulis, Vassilis G.
通讯作者：
Gorgoulis, Vassilis G.
DOI：
10.18632/aging.100443
发表时间：
2012-03
期刊：
Aging
影响因子：
--
作者：
Blagosklonny MV
通讯作者：
Blagosklonny MV
影响因子：
16.8
作者：
Arnoult N;Karlseder J
通讯作者：
Karlseder J
影响因子：
64.8
作者：
Baker DJ;Childs BG;Durik M;Wijers ME;Sieben CJ;Zhong J;Saltness RA;Jeganathan KB;Verzosa GC;Pezeshki A;Khazaie K;Miller JD;van Deursen JM
通讯作者：
van Deursen JM
DOI：
10.1146/annurev-pathol-121808-102144
发表时间：
2010
期刊：
Annual review of pathology
影响因子：
--
作者：
Coppé JP;Desprez PY;Krtolica A;Campisi J
通讯作者：
Campisi J