IGF 1 RECEPTOR MUTATIONS IN HUMAN INTRAUTERINE GROWTH RETARDATION

IGF 1 受体突变导致人类宫内生长迟缓

• 批准号: 6414947
• 负责人: STEVEN D CHERNAUSEK
• 金额: $ 2.85万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-12-01 至 2001-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6414947
• 关键词: clinical research; disease /disorder etiology; gene mutation; growth factor receptors; human subject; insulinlike growth factor; prenatal growth disorder

Intrauterine growth retardation ocurs when fetal growth is attenuated prior to birth. It is analogous to growth failure during childhood, but because there are so few instances when accurate interval growth is assessed prior to birth, it is usually diagnosed on the basis of birth weight rather than on rate of growth. It is a common disorder with multiple etiologies, occurring in up to 3% of all pregnancies. It is associated with significant morbidities, such as hypoglycemia, intellectual deficit, and permanent short stature. Although many studies have served to delineate the clinical spectrum of IUGR, and relate some of the etiologies and clinical features to outcome, in most cases, the causes of IUGR remain unknown and virtually nothing is known of the precise mechanisms which ultimately produce IUGR in humans. The objective of this project, therefore, is to begin to address the problem of IUGR by identifying abnormalities of the IGF-1 receptor as responsible for IUGR in humans. Data from animal and human studies provide solid evidence that a deficiency of IGF-1 action, either from reduced production of the peptide or dysfunction of the IGF-1 receptor, may lead to IUGR in man.

当胎儿在出生前生长减弱时，就会发生宫内生长迟缓。 它类似于童年时期的生长障碍，但由于在出生前评估准确的生长间隔的情况很少，因此通常根据出生体重而不是生长速度来诊断。 这是一种具有多种病因的常见疾病，在所有妊娠中发生率高达 3%。 它与严重的疾病有关，例如低血糖、智力缺陷和永久性身材矮小。 尽管许多研究已经描述了 IUGR 的临床谱，并将一些病因和临床特征与结果联系起来，但在大多数情况下，IUGR 的原因仍然未知，而且对于最终在人类中产生 IUGR 的精确机制几乎一无所知。 。 因此，该项目的目标是通过识别导致人类 IUGR 的 IGF-1 受体异常来开始解决 IUGR 问题。来自动物和人类研究的数据提供了确凿的证据，表明 IGF-1 作用的缺陷（无论是由于肽产生减少还是 IGF-1 受体功能障碍）可能导致人类 IUGR。