title: Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes.
abstract: Congenital insensitivity to pain with anhidrosis (CIPA) is identified as a genetic disorder of mutations in the human TrkA known as high affinity receptor of nerve growth factor (NGF). NGF signal through TrkA promotes anti-apoptotic activity in hematopoietic cells including B lymphocytes. Here we studied the effect of NGF on anti-apoptotic activity by using human EBV-immortalized B lymphoblastoid cell lines (EB-LCLs) derived from a patient with CIPA and the associated carriers of CIPA. The TrkA(mt/mt) EB-LCL derived from the CIPA patient and the TrkA(wt/mt) EB-LCL derived from the carrier with the heterozygous TrkA mutation did not show any responses to NGF on anti-apoptotic activity. We concluded that this phenomenon is one of the pathogeneses of CIPA.
authors.affiliation: Department of Pediatrics, Dokkyo University School of Medicine, Mibu, Tochigi, Japan. syuya@dokkyomed.ac.jp
authors.forename: Yuya
authors.initials: Y
authors.lastname: Sato
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Hidemitsu
authors.initials: H
authors.lastname: Kurosawa
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sugita
authors.forename: Mitsuoki
authors.initials: M
authors.lastname: Eguchi
mesh_terms: D017209:Apoptosis / Q000502:physiology; D051017:Apoptosis Regulatory Proteins; D001402:B-Lymphocytes / Q000166:cytology / Q000378:metabolism; D000072224:Bcl-2-Like Protein 11; D002352:Carrier Proteins / Q000378:metabolism; D002478:Cells, Cultured; D005260:Female; D005912:Gliotoxin / Q000494:pharmacology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000378:metabolism; D020932:Nerve Growth Factor / Q000494:pharmacology*; D011518:Proto-Oncogene Proteins / Q000378:metabolism; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000378:metabolism; D020917:Receptor, trkA / Q000235:genetics* / Q000502:physiology; D051028:bcl-2-Associated X Protein; D051020:bcl-X Protein; D048051:p38 Mitogen-Activated Protein Kinases / Q000378:metabolism
chemical_list: D051017:Apoptosis Regulatory Proteins; C494811:BCL2L1 protein, human; C000606775:BCL2L11 protein, human; D000072224:Bcl-2-Like Protein 11; D002352:Carrier Proteins; D008565:Membrane Proteins; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D051028:bcl-2-Associated X Protein; D051020:bcl-X Protein; D005912:Gliotoxin; D020932:Nerve Growth Factor; D020917:Receptor, trkA; D048051:p38 Mitogen-Activated Protein Kinases