TTF-1基因突变与先天性甲状腺功能低下

An association of mutations in thyroid transcription factor 1 gene with congenital hypothyroidism

甲状腺转录因子1是含一同源盒域的转录因子,属于NKX2家族。其与甲状腺的发育有关,并且调控甲状腺球蛋白、甲状腺过氧化物酶和促甲状腺激素受体基因的转录。其基因除在甲状腺中表达,还表达于肺、前脑和垂体。甲状腺转录因子1基因突变可能导致突变的甲状腺转录因子1不能与靶基因结合。人类甲状腺转录因子1基因突变可表现为先天性甲状腺功能低下、神经系统发育异常或合并肺部症状,且均为杂合突变。

Thyroid transcription factor 1 （TTF-1） is a homeobox domain transcription factor of the NKX2 family, TTF-1 is related to development of the thyroid gland and regulates and controls transcriptions of thyroglobulin （TG）, thyroperoxidase （TPO）, and thyrotropin （TSH） receptor genes. Besides thyroid gland, it is also expressed in lungs, forebrain and pituitary gland. Mutations in TTF-1 gene most likely result in failure of binding of TTF-1 to its target gene. In the human, the mutant TTF-1 may cause congenital hypothyroidism （CH）, neurologicnl deficits and pulmonary alterations, and heterozygous mutations had been found in all patients with mutations in TTF-1.