The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affect...
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| Published in | American journal of human genetics Vol. 91; no. 2; pp. 320 - 329 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
10.08.2012
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2012.07.014 |
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| Abstract | Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. |
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| AbstractList | Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. [PUBLICATION ABSTRACT] Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene ( TFG ) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration.Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant muscle weakness, and atrophy followed by distal sensory involvement. To date, large families affected by HMSN-P have been reported from two different regions in Japan. Linkage and haplotype analyses of two previously reported families and two new families with the use of high-density SNP arrays further defined the minimum candidate region of 3.3 Mb in chromosomal region 3q12. Exome sequencing showed an identical c.854C>T (p.Pro285Leu) mutation in the TRK-fused gene (TFG) in the four families. Detailed haplotype analysis suggested two independent origins of the mutation. Pathological studies of an autopsied patient revealed TFG- and ubiquitin-immunopositive cytoplasmic inclusions in the spinal and cortical motor neurons. Fragmentation of the Golgi apparatus, a frequent finding in amyotrophic lateral sclerosis, was also observed in the motor neurons with inclusion bodies. Moreover, TAR DNA-binding protein 43 kDa (TDP-43)-positive cytoplasmic inclusions were also demonstrated. In cultured cells expressing mutant TFG, cytoplasmic aggregation of TDP-43 was demonstrated. These findings indicate that formation of TFG-containing cytoplasmic inclusions and concomitant mislocalization of TDP-43 underlie motor neuron degeneration in HMSN-P. Pathological overlap of proteinopathies involving TFG and TDP-43 highlights a new pathway leading to motor neuron degeneration. |
| Author | Ishiura, Hiroyuki Nicholson, Garth A. Tanabe, Osamu Fujita, Koji Takahashi, Yuji Date, Hidetoshi Ichikawa, Yaeko Yoshino, Hiide Kaji, Ryuji Nakagawa, Masanori Maeda, Kouji Goto, Satoshi Goto, Jun Ito, Hidefumi Morigaki, Ryoma Izumi, Yuishin Yamauchi, Naoko Kawarai, Toshitaka Ahsan, Budrul Tsuji, Shoji Iwata, Atsushi Murayama, Shigeo Mitsui, Jun Koizumi, Hidetaka Ikemura, Masako Sobue, Gen Sako, Wataru Yoshida, Mari |
| AuthorAffiliation | 10 Department of Neurology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan 5 Department of Cell and Developmental Biology, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA 6 Yoshino Neurology Clinic, 3-3-16 Konodai, Ichikawa, Chiba 272-0827, Japan 7 Department of Pathology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan 12 Department of Neurology and Gerontology, Kyoto Prefectural University Graduate School of Medicine, 465, Kajii-cho, Kamigyo-ku, Kyoto 602-0841, Japan 2 Medical Genome Center, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan 11 Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya-shi, Aichi 466-0065, Japan 9 Molecular Medicine Laboratory and ANZAC Research Institute, University of Sydney, Sydney NSW 2139, Australia 4 Department of Neuropatholo |
| AuthorAffiliation_xml | – name: 9 Molecular Medicine Laboratory and ANZAC Research Institute, University of Sydney, Sydney NSW 2139, Australia – name: 12 Department of Neurology and Gerontology, Kyoto Prefectural University Graduate School of Medicine, 465, Kajii-cho, Kamigyo-ku, Kyoto 602-0841, Japan – name: 10 Department of Neurology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan – name: 13 Division of Applied Genetics, National Institute of Genetics, Yata 1111, Mishima, Shizuoka 11-8540, Japan – name: 1 Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – name: 11 Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya-shi, Aichi 466-0065, Japan – name: 2 Medical Genome Center, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – name: 3 Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – name: 4 Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 21 Karimata, Iwasaku, Nagakute-shi, Aichi 480-1195, Japan – name: 6 Yoshino Neurology Clinic, 3-3-16 Konodai, Ichikawa, Chiba 272-0827, Japan – name: 7 Department of Pathology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – name: 8 Department of Neuropathology and the Brain Bank for Aging Research, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan – name: 5 Department of Cell and Developmental Biology, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA |
| Author_xml | – sequence: 1 givenname: Hiroyuki surname: Ishiura fullname: Ishiura, Hiroyuki organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 2 givenname: Wataru surname: Sako fullname: Sako, Wataru organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 3 givenname: Mari surname: Yoshida fullname: Yoshida, Mari organization: Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 21 Karimata, Iwasaku, Nagakute-shi, Aichi 480-1195, Japan – sequence: 4 givenname: Toshitaka surname: Kawarai fullname: Kawarai, Toshitaka organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 5 givenname: Osamu surname: Tanabe fullname: Tanabe, Osamu organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 6 givenname: Jun surname: Goto fullname: Goto, Jun organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 7 givenname: Yuji surname: Takahashi fullname: Takahashi, Yuji organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 8 givenname: Hidetoshi surname: Date fullname: Date, Hidetoshi organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 9 givenname: Jun surname: Mitsui fullname: Mitsui, Jun organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 10 givenname: Budrul surname: Ahsan fullname: Ahsan, Budrul organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 11 givenname: Yaeko surname: Ichikawa fullname: Ichikawa, Yaeko organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 12 givenname: Atsushi surname: Iwata fullname: Iwata, Atsushi organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 13 givenname: Hiide surname: Yoshino fullname: Yoshino, Hiide organization: Yoshino Neurology Clinic, 3-3-16 Konodai, Ichikawa, Chiba 272-0827, Japan – sequence: 14 givenname: Yuishin surname: Izumi fullname: Izumi, Yuishin organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 15 givenname: Koji surname: Fujita fullname: Fujita, Koji organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 16 givenname: Kouji surname: Maeda fullname: Maeda, Kouji organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 17 givenname: Satoshi surname: Goto fullname: Goto, Satoshi organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 18 givenname: Hidetaka surname: Koizumi fullname: Koizumi, Hidetaka organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 19 givenname: Ryoma surname: Morigaki fullname: Morigaki, Ryoma organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 20 givenname: Masako surname: Ikemura fullname: Ikemura, Masako organization: Department of Pathology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 21 givenname: Naoko surname: Yamauchi fullname: Yamauchi, Naoko organization: Department of Pathology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan – sequence: 22 givenname: Shigeo surname: Murayama fullname: Murayama, Shigeo organization: Department of Neuropathology and the Brain Bank for Aging Research, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan – sequence: 23 givenname: Garth A. surname: Nicholson fullname: Nicholson, Garth A. organization: Molecular Medicine Laboratory and ANZAC Research Institute, University of Sydney, Sydney NSW 2139, Australia – sequence: 24 givenname: Hidefumi surname: Ito fullname: Ito, Hidefumi organization: Department of Neurology, Kyoto University Graduate School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan – sequence: 25 givenname: Gen surname: Sobue fullname: Sobue, Gen organization: Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya-shi, Aichi 466-0065, Japan – sequence: 26 givenname: Masanori surname: Nakagawa fullname: Nakagawa, Masanori organization: Department of Neurology and Gerontology, Kyoto Prefectural University Graduate School of Medicine, 465, Kajii-cho, Kamigyo-ku, Kyoto 602-0841, Japan – sequence: 27 givenname: Ryuji surname: Kaji fullname: Kaji, Ryuji email: rkaji@clin.med.tokushima-u.ac.jp organization: Department of Clinical Neuroscience, The Tokushima University Graduate School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan – sequence: 28 givenname: Shoji surname: Tsuji fullname: Tsuji, Shoji email: tsuji@m.u-tokyo.ac.jp organization: Department of Neurology, The University of Tokyo Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan |
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| ContentType | Journal Article |
| Copyright | 2012 The American Society of Human Genetics 2015 INIST-CNRS Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Aug 10, 2012 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics |
| Copyright_xml | – notice: 2012 The American Society of Human Genetics – notice: 2015 INIST-CNRS – notice: Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press Aug 10, 2012 – notice: 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics |
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| Keywords | Proximal Nervous system diseases Gene Genetics Dominant character Neuropathy Hereditary Genetic disease |
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| Title | The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement |
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