Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies |
| |
| Institution: | 1. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo 187-8551, Japan;2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo 187-8551, Japan;3. Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo 187-8551, Japan;4. National Center of Neurology and Psychiatry, N, National Center Hospital, 4-1-1 Ogawahigashimachi, Kodaira, Tokyo 187-8551, Japan;1. Department of Neurology, Tokushima University Hospital, Tokushima, Japan;2. Department of Rheumatology, Chikamori Hospital, Kochi, Japan;3. Department of Supportive and Promotive Medicine of the Municipal Hospital, Kagawa University Faculty of Medicine, Kagawa, Japan;4. Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata, Japan;5. Department of Dermatology, Tokushima University Hospital, Tokushima, Japan;1. Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan;2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan;1. Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA;2. Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA;3. Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA;4. Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA;1. Department of Neurology, Oregon Health & Science University, Portland, OR, USA;2. Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA;3. Department of Cardiology, Oregon Health & Science University, Portland, OR, USA;1. Division of Neonatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada;2. Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada;3. Department of Human Genetics, McGill University, Montreal, Quebec, Canada;4. Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada |
| |
| Abstract: | Focal thickening of the myelin sheath, also known as tomacula, is a characteristic pathological feature of patients with hereditary neuropathy with liability to pressure palsies (HNPP). However, a deeper understanding of the pathology underlying unmyelinated fibers and nonmyelinating Schwann cells is required. Electron microscopic examination of sural nerve biopsy specimens was performed for 14 HNPP patients with peripheral myelin protein 22 (PMP22) deletion, and their results were compared to 12 normal controls and 14 Charcot–Marie–Tooth disease type 1A (CMT1A) patients with PMP22 duplication. The number of unmyelinated axons in a single axon-containing nonmyelinating Schwann cell subunit in the HNPP group significantly increased compared with that in normal controls (1.99 ± 0.66 vs. 1.57 ± 0.52, p < 0.05). Conversely, these numbers significantly decreased in the CMT1A group compared with those in normal controls (1.16 ± 0.16, p < 0.05). Some unmyelinated axons in patients with HNPP were incompletely surrounded by the cytoplasm of Schwann cells, almost as if the Schwann cells failed to form mesaxons; such failure in mesaxon formation was not observed in normal controls or in patients with CMT1A. These findings suggest that PMP22 dosage affects nonmyelinating as well as myelinating Schwann cells. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
