出生缺陷中基因与酒精的相互作用。

2区 生物学 Q1 Biochemistry, Genetics and Molecular Biology Current Topics in Developmental Biology Pub Date : 2023-01-01 Epub Date: 2022-11-14 DOI:10.1016/bs.ctdb.2022.10.003
Joshua L Everson, Johann K Eberhart
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引用次数: 0

摘要

大多数人类先天缺陷被认为是由遗传和环境因素的复杂相互作用造成的。即使是像胎儿酒精谱系障碍(FASD)这样表面看来简单明了的疾病也是如此。FASD 描述了因产前接触酒精而导致的一系列结构和神经功能紊乱。虽然 FASD 需要接触酒精,但人类和动物模型研究的证据表明,其他遗传和/或环境因素也会影响胚胎对酒精的易感性。目前仅发现了有限的酒精与先天缺陷的相互作用,还有许多致敏的遗传和环境因素可能尚未发现。因此,尽管不能令人满意,但对于所有妊娠来说,并没有一个明确的 "安全 "酒精剂量。确定这些其他因素以及从机理上描述已知的相互作用对于更好地理解和预防 FASD 至关重要,需要对人类和模式生物进行综合研究。
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Gene-alcohol interactions in birth defects.

Most human birth defects are thought to result from complex interactions between combinations of genetic and environmental factors. This is true even for conditions that, at face value, may appear simple and straightforward, like fetal alcohol spectrum disorders (FASD). FASD describe the full range of structural and neurological disruptions that result from prenatal alcohol exposure. While FASD require alcohol exposure, evidence from human and animal model studies demonstrate that additional genetic and/or environmental factors can influence the embryo's susceptibility to alcohol. Only a limited number of alcohol interactions in birth defects have been identified, with many sensitizing genetic and environmental factors likely yet to be identified. Because of this, while unsatisfying, there is no definitively "safe" dose of alcohol for all pregnancies. Determining these other factors, as well as mechanistically characterizing known interactions, is critical for better understanding and preventing FASD and requires combined scrutiny of human and model organism studies.

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来源期刊
CiteScore
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发文量
91
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