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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Apoptosis Regulatory Proteins
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Apoptosis* / physiology
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B-Lymphocytes / cytology
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B-Lymphocytes / metabolism
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Bcl-2-Like Protein 11
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Carrier Proteins / metabolism
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Cells, Cultured
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Female
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Gliotoxin / pharmacology
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Hereditary Sensory and Autonomic Neuropathies / genetics
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Hereditary Sensory and Autonomic Neuropathies / metabolism*
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Hereditary Sensory and Autonomic Neuropathies / pathology
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Humans
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Infant
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Membrane Proteins / metabolism
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Nerve Growth Factor / pharmacology*
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Proto-Oncogene Proteins / metabolism
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Proto-Oncogene Proteins c-bcl-2 / metabolism
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Receptor, trkA / genetics*
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Receptor, trkA / physiology
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bcl-2-Associated X Protein
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bcl-X Protein
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p38 Mitogen-Activated Protein Kinases / metabolism
Substances
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Apoptosis Regulatory Proteins
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BCL2L1 protein, human
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BCL2L11 protein, human
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Bcl-2-Like Protein 11
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Carrier Proteins
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Membrane Proteins
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Proto-Oncogene Proteins
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Proto-Oncogene Proteins c-bcl-2
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bcl-2-Associated X Protein
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bcl-X Protein
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Gliotoxin
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Nerve Growth Factor
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Receptor, trkA
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p38 Mitogen-Activated Protein Kinases