ABSTRACT
@#Selective tooth agenesis (STA) is an abnormal number of teeth due to genetic factors or the environment and is most commonly observed for permanent teeth. LRP6 is one of the common causative genes of STA and is inherited by an autosomal dominant mechanism, leading to non-syndrome tooth agenesis (NSTA) or syndrome tooth agenesis (STA). NSTA is only involved in tooth number and appearance abnormalities, whereas STA caused by LRP6 gene mutation results abnormal ear development, oral-facial clefting, sparse hair and hypohidrosis. In this paper, we review the phenotype and gene mutation traits of selective STA caused by LRP6 gene mutation identified in recent years and describe 38 patients with tooth agenesis from 24 mutation sites of LRP6 gene. We analyzed the percentage of missing teeth and found that the lateral incisor in the maxilla and the second premolar in the maxilla and mandible were most commonly lost, whereas all central incisors in the maxilla remained. LRP6 gene plays a major role in tooth development via the WNT/β-catenin signaling pathway, and LRP6 gene mutation can lead to a series of abnormal manifestations due to the disruption of the signaling pathway. The literature showed that LRP6 gene mutations occurred mostly at the E1 or E2 subdomain, meaning that STA due to the mutants extracellularly disturbed the WNT/β-catenin signaling pathway. However, mature treatments for selective congenital tooth loss are lacking.
ABSTRACT
Objective@#To investigate the clinical significance of serum low-density lipoprotein receptor-related protein 6 (LRP6) level in patients with acute myocardial infarction (AMI).@*Methods@#One hundred and fifty patients with AMI were selected as the AMI group and 150 patients with suspected coronary heart disease without coronary artery stenosis were selected as control group from January 2017 to December 2018 in Quzhou People′s Hospital of Zhejiang. The serum LRP6 levels were determined by Western blot. The serum B-type brain natriuretic peptide (BNP) and cardiac troponin I (cTnI) levels were determined by enzyme-linked immunosorbent assay (ELISA).@*Results@#The levels of total cholesterol (TC), triglyceride (TG) and low-density lipoprotein cholesterol (LDL-C) in AMI group were higher than those in the control group [(4.42 ± 0.79) mmol/L vs. (3.79 ± 0.82) mmol/L, (1.52 ± 0.33) mmol/L vs. (1.37 ± 0.38) mmol/L, (3.15 ± 0.34) mmol/L vs. (2.91 ± 0.28) mmol/L], and the level of high-density lipoprotein cholesterol (HDL-C) was lower than that in control group [(0.95 ± 0.26) mmol/L vs. (1.21 ± 0.33) mmol/L], and there were significant differences (P<0.05). The level of serum LRP6 and left ventricular ejection fractionin in AMI group were lower than those in control group [0.12 ± 0.03 vs. 0.38 ± 0.07, (53.27 ± 6.89)% vs. (66.82 ± 7.35)%], and the BNP and cTnI levels were higher than those in control group [(78.16 ± 5.27) ng/L vs. (7.13 ± 1.24) ng/L, (125.83 ± 3.26) ng/L vs.(0.71 ± 0.24) ng/L], and there were significant differences (P<0.05). The serum LRP6 level was negatively correlated with LDL-C, BNP, cTnI and SYNTAX scores (r=- 0.587, - 0.523, - 0.542, - 0.583, P<0.05), and was positively correlated with left ventricular ejection fraction (r=0.515, P<0.05).@*Conclusions@#Serum LRP6 level is decreased in patients with AMI. Serum LRP6 is closely related to the severity of AMI and the extent of coronary artery disease.
ABSTRACT
Objective To investigate the clinical significance of serum low-density lipoprotein receptor-related protein 6 (LRP6) level in patients with acute myocardial infarction (AMI).Methods One hundred and fifty patients with AMI were selected as the AMI group and 150 patients with suspected coronary heart disease without coronary artery stenosis were selected as control group from January 2017 to December 2018 in Quzhou People's Hospital of Zhejiang.The serum LRP6 levels were determined by Western blot.The serum B-type brain natriuretic peptide (BNP) and cardiac troponin I (cTnI) levels were determined by enzyme-linked immunosorbent assay (ELISA).Results The levels of total cholesterol (TC),triglyceride (TG) and low-density lipoprotein cholesterol (LDL-C) in AMI group were higher than those in the control group [(4.42 ± 0.79) mmol/L vs.(3.79 ± 0.82) mmol/L,(1.52 ± 0.33) mmol/L vs.(1.37 ± 0.38) mmol/L,(3.15 ± 0.34) mmol/L vs.(2.91 ± 0.28) rmol/L],and the level of high-density lipoprotein cholesterol (HDL-C) was lower than that in control group [(0.95 ± 0.26) mmol/L vs.(1.21 ± 0.33) mmol/L],and there were significant differences (P ＜ 0.05).The level of serum LRP6 and left ventricular ejection fractionin in AMI group were lower than those in control group [0.12 ± 0.03 vs.0.38 ± 0.07,(53.27 ± 6.89)％ vs.(66.82 ± 7.35)％],and the BNP and cTnI levels were higher than those in control group [(78.16 ± 5.27) ng/L vs.(7.13 ± 1.24) ng/L,(125.83 ± 3.26) ng/L vs.(0.71 ± 0.24) ng/L],and there were significant differences (P ＜ 0.05).The serum LRP6 level was negatively correlated with LDL-C,BNP,cTnI and SYNTAX scores (r =-0.587,-0.523,-0.542,-0.583,P＜ 0.05),and was positively correlated with left ventricular ejection fraction (r=0.515,P ＜ 0.05).Conclusions Serum LRP6 level is decreased in patients with AMI.Serum LRP6 is closely related to the severity of AMI and the extent of coronary artery disease.