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首页> 外文期刊>American Journal of Physiology >Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure
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Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure

机译：Ataxia Telanciectasia突变激酶是心力衰竭开始的自噬平衡器

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摘要

Ataxia telangiectasia syndrome represents a genetic disorder due to the absence or reduced levels of ataxia telangiectasia mutated kinase (ATM) activity. Patients exhibit a wide array of abnormalities, including ataxia, telangiectasia, neurodegenera-tion, increased sensitivity to ionizing radiation, predisposition to cancer, and variable immunodeficiencies. Ataxia telangiectasia occurs in 1 of 88,000-100,000 live births in the United States with the onset of symptoms in infancy (9). Telangiectasia appears between 2 and 8 yr of age. The median age at death is around 20 yr in homozygous mutation carriers, mostly caused by respiratory failure or cancer. One the other hand, single heterozygosity is not rare and occurs in 0.5-2% of the general population (7). These patients have much milder clinical symptoms than the homozygote phenotype because of remaining ATM activity. It is likely that there are many individuals who are not even diagnosed as ATM mutation carriers until a later stage of life. Importantly, an epidemiological study (8) has now suggested that these individuals have a higher risk of ischemic heart disease compared with the general population. Thus, understanding the role of ATM in the development of ischemic heart disease is highly important.
机译：Ataxia Telanciectasia综合征代表遗传障碍，由于缺乏或降低的Ataxia Telanciectasia突变激酶（ATM）活性。患者表现出广泛的异常，包括共济失调，毛景障碍，神经衰老，对电离辐射的敏感性增加，对癌症的易感性和可变免疫缺乏。 Ataxia Telangiectasia发生在美国的1个中的1个，在美国的188,000-100,000个活产出生中，患有婴儿期的症状（9）。 Telangiectasia出现在2到8年之间。死亡中位数的年龄在纯合突变载体中约为20年，主要由呼吸衰竭或癌症引起。另一方面，单一的杂合子不是罕见的，并且发生在一般人群的0.5-2％（7）中。由于剩余的ATM活动，这些患者临床症状比Homozygote表型更温和。很可能有许多人甚至没有被诊断为ATM变异载体，直到稍后的生命阶段。重要的是，流行病学研究现在表明，与一般人群相比，这些人具有更高的缺血性心脏病风险。因此，了解ATM在缺血性心脏病发展中的作用非常重要。

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