NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1 |
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Authors: | Ji Soo Shin Ki Wha Chung Sun Young Cho Jiyoung Yun Su Jin Hwang Sung Hee Kang En Min Cho Seung-Min Kim Byung-Ok Choi |
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Institution: | (1) Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea;(2) Department of Biological Science, Kongju National University, Gongju, South Korea;(3) Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea |
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Abstract: | Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations
in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in
CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean
CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is
associated with demyelinating neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no
giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed
protein kinases but also other structural alteration of the NEFL protein in a different way.
J.S. Shin and K.W. Chung contributed equally to this work. |
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Keywords: | Peripheral neuropathy Charcot-Marie-Tooth disease type 1F (CMT1F) Neurofilament light chain polypeptide (NEFL) Pro22Arg |
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