EXPERIMENTAL FETAL ALCOHOL SYNDROME - PROPOSED PATHOGENIC BASIS FOR A VARIETY OF ASSOCIATED FACIAL AND BRAIN ANOMALIES

EXPERIMENTAL FETAL ALCOHOL SYNDROME - PROPOSED PATHOGENIC BASIS FOR A VARIETY OF ASSOCIATED FACIAL AND BRAIN ANOMALIES
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DOI:
10.1002/ajmg.1320440210
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发表时间:
1992-09-15
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
SULIK, KK
SULIK, KK
中科院分区:
其他
文献类型:
--
作者:
KOTCH, LE;SULIK, KK

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C57 Bl/6J小鼠胚胎在体内急性致畸暴露于乙醇,在初始损伤的12小时内,在选定的细胞群中导致过度的细胞死亡。妊娠第8天胚胎暴露后观察到的过度细胞死亡模式(晚期前体节-约5体节对阶段)在时间上有所不同,但主要涉及前神经板边缘的细胞群。细胞死亡模式似乎与随后观察到的畸形相关,包括露脑畸形(无脑畸形)、无脑畸形、垂体发育不良、双侧或单侧唇裂、上颌骨发育不全和正中面缺陷和裂。在这个模型中,也许在人类中,这些脑和面部畸形的关联可能是由于对当前研究中确定的选定细胞群的早期损伤。
Acute teratogenic exposure of C57Bl/6J mouse embryos to ethanol in vivo results, within 12 hours of initial insult, in excessive cell death in selected cell populations. The patterns of excessive cell death observed following exposure of gestational day 8 embryos (late presomite-approximately 5 somite pair stages) vary somewhat temporospatially, but primarily involve the cell populations at the rim of the anterior neural plate. The cell death patterns appear to be pathogenically correlated with subsequently observed malformations including exencephaly (anencephaly), arhinencephaly, pituitary dysplasia, bilateral or unilateral cleft lip, maxillary hypoplasia, and median facial deficiencies and clefts. The association of these brain and facial malformations in this model, and perhaps in humans, may be accounted for by early insult to the selected cell populations identified in the current investigation.