title: Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease.
abstract: Hirschsprung disease (HSCR) is characterized by the absence of intramural ganglion cells in the nerve plexuses of the distal gut. Recent studies have shown that the bone morphogenetic protein receptor-type IA (BMPR1α), actinin-alpha 4 (ACTN4α) and fatty acid binding protein 7 (FABP7) play important roles in the differentiation and development of neurons. The aganglionic (stenotic) and the ganglionic (normal) colon segment tissues of 60 HSCR patients were collected to investigate the expression pattern of BMPR1α, ACTININ-4α and FABP7 using RT-PCR, quantitative real-time RT-PCR (qRT-PCR) and immunohistochemical staining. The mRNA and protein expressions of BMPR1α and ACTN4α were higher in the stenotic colon segment tissue than those in the normal colon segment tissue. However, the mRNA and protein expressions of FABP7 were lower in the stenotic colon segment tissue than those in the normal colon segment tissue. The study in HSCR patients, findings in mRNA and protein alterations to expecting provide more information to in order to find some clue for the pathomechanism of HSCR disease.
authors: Key Laboratory of Health Ministry for Congenital Malformations, Shengjing Hospital of China Medical University 36 Sanhao Street Heping District, Shenyang, Liaoning, 110004, The People's Republic of China.
authors: Weilin
authors: W
authors: Wang
authors: Department of Pediatric Surgery, Women and Children Hospital Dandong City Liaoning 118002, The People's Republic of China.
authors: Zhenwei
authors: Z
authors: Su
authors: Key Laboratory of Health Ministry for Congenital Malformations, Shengjing Hospital of China Medical University 36 Sanhao Street Heping District, Shenyang, Liaoning, 110004, The People's Republic of China.
authors: Dong
authors: D
authors: Chen
authors: Key Laboratory of Health Ministry for Congenital Malformations, Shengjing Hospital of China Medical University 36 Sanhao Street Heping District, Shenyang, Liaoning, 110004, The People's Republic of China.
authors: Jie
authors: J
authors: Mi
authors: Key Laboratory of Health Ministry for Congenital Malformations, Shengjing Hospital of China Medical University 36 Sanhao Street Heping District, Shenyang, Liaoning, 110004, The People's Republic of China.
authors: Hong
authors: H
authors: Gao
mesh_terms: D000185:Actinin / Q000032:analysis* / Q000235:genetics; D001706:Biopsy; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000032:analysis* / Q000235:genetics; D002352:Carrier Proteins / Q000032:analysis* / Q000235:genetics; D002675:Child, Preschool; D003106:Colon / Q000737:chemistry* / Q000473:pathology; D003251:Constriction, Pathologic; D000071438:Fatty Acid-Binding Protein 7; D005260:Female; D005786:Gene Expression Regulation; D006627:Hirschsprung Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D012333:RNA, Messenger / Q000032:analysis; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D025521:Tumor Suppressor Proteins / Q000032:analysis* / Q000235:genetics
chemical_list: C111453:ACTN4 protein, human; D002352:Carrier Proteins; C107608:FABP7 protein, human; D000071438:Fatty Acid-Binding Protein 7; D012333:RNA, Messenger; D025521:Tumor Suppressor Proteins; D000185:Actinin; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I
keywords: ACTININ-4α and FABP7; BMPR1α; Hirschsprung disease (HSCR); aganglionic (stenotic) colon segment; ganglionic (normal) colon segment