Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011)
Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. The present study describes the clinical and molecular epidemiologic findings of NCL in Border Collies in Japan for 12 years, between 2000 and 2011. The number of affected dogs was...
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| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/383174 |
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| author | Keijiro Mizukami Takuji Kawamichi Hiroshi Koie Shinji Tamura Satoru Matsunaga Shigeki Imamoto Miyoko Saito Daisuke Hasegawa Naoaki Matsuki Satoshi Tamahara Shigenobu Sato Akira Yabuki Hye-Sook Chang Osamu Yamato |
| author_facet | Keijiro Mizukami Takuji Kawamichi Hiroshi Koie Shinji Tamura Satoru Matsunaga Shigeki Imamoto Miyoko Saito Daisuke Hasegawa Naoaki Matsuki Satoshi Tamahara Shigenobu Sato Akira Yabuki Hye-Sook Chang Osamu Yamato |
| author_sort | Keijiro Mizukami |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. The present study describes the clinical and molecular epidemiologic findings of NCL in Border Collies in Japan for 12 years, between 2000 and 2011. The number of affected dogs was surveyed, and their clinical characteristics were analyzed. In 4 kennels with affected dogs, the dogs were genotyped. The genetic relationships of all affected dogs and carriers identified were analyzed. The survey revealed 27 affected dogs, but there was a decreasing trend at the end of the study period. The clinical characteristics of these affected dogs were updated in detail. The genotyping survey demonstrated a high mutant allele frequency in examined kennels (34.8%). The pedigree analysis demonstrated that all affected dogs and carriers in Japan are related to some presumptive carriers imported from Oceania and having a common ancestor. The current high prevalence in Japan might be due to an overuse of these carriers by breeders without any knowledge of the disease. For NCL control and prevention, it is necessary to examine all breeding dogs, especially in kennels with a high prevalence. Such endeavors will reduce NCL prevalence and may already be contributing to the recent decreasing trend in Japan. |
| format | Article |
| id | doaj-art-79d33e5e630d48778e939b2dd7ddf323 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-79d33e5e630d48778e939b2dd7ddf3232025-02-03T05:43:36ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/383174383174Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011)Keijiro Mizukami0Takuji Kawamichi1Hiroshi Koie2Shinji Tamura3Satoru Matsunaga4Shigeki Imamoto5Miyoko Saito6Daisuke Hasegawa7Naoaki Matsuki8Satoshi Tamahara9Shigenobu Sato10Akira Yabuki11Hye-Sook Chang12Osamu Yamato13Laboratory of Clinical Pathology, Department of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima, Kagoshima 890-0065, JapanJapan Border Collie Health Network, 1-14-8 Manabigaoka, Tarumi-ku, Hyogo, Kobe 655-0004, JapanDepartment of Veterinary Medicine, College of Bioresource Sciences, Nihon University, 1866 Kameino, Kanagawa, Fujisawa 252-0880, JapanTamura Animal Clinic, 7-16 Yoshimien, Saeki-ku, Hiroshima, Hiroshima 731-5132, JapanJapan Animal Referral Medical Center, 2-5-8 Kuji, Takatsu-ku, Kanagawa, Kawasaki 213-0032, JapanShinjo Animal Hospital, 104-1 Katsuragi, Nara, Katsuragi 639-2144, JapanLaboratory of Veterinary Surgery II, School of Veterinary Medicine, Azabu University, 1-17-71 Fuchinobe, Kanagawa, Sagamihara 229-8501, JapanDepartment of Veterinary Science, Nippon Veterinary and Life Science University, 1-7-1 Kyounan-chou, Tokyo, Musashino 180-8602, JapanDepartment of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Tokyo, Bunkyo-ku 113-8657, JapanDepartment of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Tokyo, Bunkyo-ku 113-8657, JapanSato Animal Hospital, 6-38-20 Goinishi, Chiba, Ichihara 290-0038, JapanLaboratory of Clinical Pathology, Department of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima, Kagoshima 890-0065, JapanLaboratory of Clinical Pathology, Department of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima, Kagoshima 890-0065, JapanLaboratory of Clinical Pathology, Department of Veterinary Medicine, Kagoshima University, 1-21-24 Korimoto, Kagoshima, Kagoshima 890-0065, JapanNeuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative lysosomal disease that causes premature death. The present study describes the clinical and molecular epidemiologic findings of NCL in Border Collies in Japan for 12 years, between 2000 and 2011. The number of affected dogs was surveyed, and their clinical characteristics were analyzed. In 4 kennels with affected dogs, the dogs were genotyped. The genetic relationships of all affected dogs and carriers identified were analyzed. The survey revealed 27 affected dogs, but there was a decreasing trend at the end of the study period. The clinical characteristics of these affected dogs were updated in detail. The genotyping survey demonstrated a high mutant allele frequency in examined kennels (34.8%). The pedigree analysis demonstrated that all affected dogs and carriers in Japan are related to some presumptive carriers imported from Oceania and having a common ancestor. The current high prevalence in Japan might be due to an overuse of these carriers by breeders without any knowledge of the disease. For NCL control and prevention, it is necessary to examine all breeding dogs, especially in kennels with a high prevalence. Such endeavors will reduce NCL prevalence and may already be contributing to the recent decreasing trend in Japan.http://dx.doi.org/10.1100/2012/383174 |
| spellingShingle | Keijiro Mizukami Takuji Kawamichi Hiroshi Koie Shinji Tamura Satoru Matsunaga Shigeki Imamoto Miyoko Saito Daisuke Hasegawa Naoaki Matsuki Satoshi Tamahara Shigenobu Sato Akira Yabuki Hye-Sook Chang Osamu Yamato Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) The Scientific World Journal |
| title | Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) |
| title_full | Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) |
| title_fullStr | Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) |
| title_full_unstemmed | Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) |
| title_short | Neuronal Ceroid Lipofuscinosis in Border Collie Dogs in Japan: Clinical and Molecular Epidemiological Study (2000–2011) |
| title_sort | neuronal ceroid lipofuscinosis in border collie dogs in japan clinical and molecular epidemiological study 2000 2011 |
| url | http://dx.doi.org/10.1100/2012/383174 |
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