ObjectiveTo explore the expressions of transthyretin(TTR) mRNA and its protein in tissues of human gallbladder with cholesterol gallstones, and to explore its role in the formation of cholesterol gallstones. MethodsGallbladder were got from cases of cholesterol gallstones(cholesterol gallstones group, n=25) and cases underwent liver transplantation with normal gallbladder(normal control group, n=9) respectively, who were treated in Ren Ji Hospital and Huashan Hospital. Real time PCR(RT-PCR) and Western blot method were used to determine the expressions of TTR mRNA and its protein respectively. In addition, 2 kinds of artificial model bile system were established to test nucleation time(NT) and nucleation activity, which added TTR and albumin(ALB). ResultsThe expression levels of TTR mRNA and protein in cholesterol gallstones group were 1.51±0.78 and 3.95±0.09 respectively, which were both higher than those of normal control group(P<0.05). The NT were(14.5±1.3)d and(18.0±0.8)d in TTR group and ALB group in small model bile system(P<0.01), which was similar with comprehensive model bile system[(13.5±0.6)d vs. (18.5±1.3)d]. The nucleation activity were 0.81 and 0.73 in small model bile system and comprehensive model bile system respectively. ConclusionsExpression of TTR up-regulates in human gallbladder tissues of patients with cholesterol gallstones, and TTR plays role of nucleation in model bile system, which is related to the formation of cholesterol gallstones.
Hereditary thyroxine protein amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, characterized by autosomal dominant inheritance, incomplete penetrance, and diverse manifestations. ATTRv deposition leads to visual impairment and even irreversible visual loss, which has a negative impact on the quality of life of patients. The diagnostic rate of pathological examination and genetic testing in ATTRv patients is low, and the detection rate of systemic amyloid lesions is low. We need to increase our awareness of this disease and gain a deeper understanding of its systemic manifestations and corresponding examination methods; genetic testing is conducted on the proband's family to investigate the relationship between different gene mutations and eye manifestations. In the future, multidisciplinary consultations can be conducted to jointly diagnose and treat patients with ATTRv eye involvement, conducting large-scale and long-term follow-up studies on the early clinical characteristics, treatment plans, efficacy, possible complications, and early prevention, in order to improve clinical diagnosis rate, reduce misdiagnosis rate, and improve patient prognosis.