Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring
Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring
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DOI：
10.1006/mgme.2001.3255
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发表时间：
2001-12-01
影响因子：
3.8
通讯作者：
McDonald, JD
中科院分区：
文献类型：
--
作者：
Cho, SB;McDonald, JD
遗传小鼠模型BTBR-Pah（enu 2）被用来更彻底地研究母体苯丙酮尿症（MPKU）的发病机制。更具体地，其用于检查母体血液苯丙氨酸（PHE）水平对MPKU后代的妊娠结果的影响，如通过出生时发育的某些关键测量（即，头围、体重和头臀长）。在这项研究中，我们清楚地观察到，母体血液PHE水平升高，无论是由母体饮食或母体基因型引起的，都是胎儿异常的原因。与人类MPKU一样，在高母体血液PHE水平条件下妊娠的后代中，出生体重、顶臀长和头围显著降低（P < 0.0001）。这些发现强烈表明，在该小鼠模型中，人MPKU和MPKU之间有足够的相似性，可以将其建立为非常有前途的模型，用于未来旨在更彻底地表征人MPKU的研究。(C)2001年，爱思唯尔科学。
The genetic mouse model BTBR-Pah(enu2) was used to more thoroughly investigate the pathogenesis of maternal phenylketonuria (MPKU). More specifically, it was used to examine the effect of maternal blood phenylalanine (PHE) level on the pregnancy outcome of MPKU offspring as determined by certain key measures of development at birth (i.e., head circumference, weight, and crown-rump length of offspring). In this study, we clearly observed that elevated maternal blood PHE levels, whether they were caused by the maternal diet or the maternal genotype, were responsible for fetal abnormalities. As in human MPKU, significant reductions (P < 0.0001) in birth weight, crown-rump length, and head circumference were seen in offspring gestated under the condition of high maternal blood PHE levels. These findings strongly suggest that there are sufficient similarities between human MPKU and MPKU in this mouse model to establish it as a very promising model for future studies designed to characterize human MPKU more thoroughly. (C) 2001 Elsevier Science.