Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate
Canine degenerative myelopathy (DM) is an adult-onset, chronic, progressive neurodegenerative disease reported in multiple canine breeds, including the German Shepherd Dog (GSD). Clinical signs include progressive motor neuron paralysis, which begins in the pelvic limbs and eventually leads to respi...
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MDPI AG
2022-06-01
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| Series: | Animals |
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| Online Access: | https://www.mdpi.com/2076-2615/12/13/1647 |
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| author | Shinichiro Maki Md Shafiqul Islam Tomohito Itoh Masanobu Nurimoto Akira Yabuki Yu Furusawa Hiroaki Kamishina Yui Kobatake Tofazzal Md Rakib Martia Rani Tacharina Osamu Yamato |
| author_facet | Shinichiro Maki Md Shafiqul Islam Tomohito Itoh Masanobu Nurimoto Akira Yabuki Yu Furusawa Hiroaki Kamishina Yui Kobatake Tofazzal Md Rakib Martia Rani Tacharina Osamu Yamato |
| author_sort | Shinichiro Maki |
| collection | DOAJ |
| description | Canine degenerative myelopathy (DM) is an adult-onset, chronic, progressive neurodegenerative disease reported in multiple canine breeds, including the German Shepherd Dog (GSD). Clinical signs include progressive motor neuron paralysis, which begins in the pelvic limbs and eventually leads to respiratory distress, which may necessitate euthanasia. A common DM-associated mutation is a single nucleotide substitution that causes an amino acid substitution (c.118G>A, p.E40K) in the canine <i>SOD1</i> gene. This <i>SOD1</i> mutation and the clinical progression rate of A/A risk genotype in the Japanese GSD population have not been analyzed before. Therefore, the aim of this study was to determine the frequency of the mutated allele and analyze the clinical progression rate in the Japanese GSD population. We studied 541 GSDs registered with the Japanese German Shepherd Dog Registration Society between 2000 and 2019. Genotyping was performed using real-time PCR with DNA extracted from the hair roots of each dog. The study revealed 330 G/G dogs (61%), 184 G/A dogs (34%), and 27 A/A dogs (5%), indicating a frequency of the mutant allele of 0.220, which are in Hardy–Weinberg equilibrium. We analyzed the clinical signs in A/A dogs with an age limit of 10 years based on information obtained from the dogs’ owners. Of the seven A/A dogs older than 10 years, owners reported DM-related clinical signs, indicating a clinical progression rate of 100%. These results, further genotyping, and thorough clinical examinations of <i>SOD1</i> A/A risk genotype will help control and prevent DM in the Japanese GSD population. |
| first_indexed | 2024-03-09T22:10:57Z |
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| issn | 2076-2615 |
| language | English |
| last_indexed | 2024-03-09T22:10:57Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Animals |
| spelling | doaj.art-fee24fec1ecb4219bed7a60be584524d2023-11-23T19:32:28ZengMDPI AGAnimals2076-26152022-06-011213164710.3390/ani12131647Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression RateShinichiro Maki0Md Shafiqul Islam1Tomohito Itoh2Masanobu Nurimoto3Akira Yabuki4Yu Furusawa5Hiroaki Kamishina6Yui Kobatake7Tofazzal Md Rakib8Martia Rani Tacharina9Osamu Yamato10Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanLaboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanMaebashi Institute of Animal Science, Livestock Improvement Association of Japan, Inc., 316 Kanamaru, Maebashi 371-0121, JapanMaebashi Institute of Animal Science, Livestock Improvement Association of Japan, Inc., 316 Kanamaru, Maebashi 371-0121, JapanLaboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanKagoshima University Veterinary Teaching Hospital, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanJoint Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, JapanJoint Department of Veterinary Medicine, Faculty of Applied Biological Sciences, Gifu University, Gifu 501-1193, JapanLaboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanLaboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanLaboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima 890-0065, JapanCanine degenerative myelopathy (DM) is an adult-onset, chronic, progressive neurodegenerative disease reported in multiple canine breeds, including the German Shepherd Dog (GSD). Clinical signs include progressive motor neuron paralysis, which begins in the pelvic limbs and eventually leads to respiratory distress, which may necessitate euthanasia. A common DM-associated mutation is a single nucleotide substitution that causes an amino acid substitution (c.118G>A, p.E40K) in the canine <i>SOD1</i> gene. This <i>SOD1</i> mutation and the clinical progression rate of A/A risk genotype in the Japanese GSD population have not been analyzed before. Therefore, the aim of this study was to determine the frequency of the mutated allele and analyze the clinical progression rate in the Japanese GSD population. We studied 541 GSDs registered with the Japanese German Shepherd Dog Registration Society between 2000 and 2019. Genotyping was performed using real-time PCR with DNA extracted from the hair roots of each dog. The study revealed 330 G/G dogs (61%), 184 G/A dogs (34%), and 27 A/A dogs (5%), indicating a frequency of the mutant allele of 0.220, which are in Hardy–Weinberg equilibrium. We analyzed the clinical signs in A/A dogs with an age limit of 10 years based on information obtained from the dogs’ owners. Of the seven A/A dogs older than 10 years, owners reported DM-related clinical signs, indicating a clinical progression rate of 100%. These results, further genotyping, and thorough clinical examinations of <i>SOD1</i> A/A risk genotype will help control and prevent DM in the Japanese GSD population.https://www.mdpi.com/2076-2615/12/13/1647canine <i>SOD1</i> genedegenerative myelopathydog breedingGerman Shepherd Dogmutant allele frequencydisease prevention |
| spellingShingle | Shinichiro Maki Md Shafiqul Islam Tomohito Itoh Masanobu Nurimoto Akira Yabuki Yu Furusawa Hiroaki Kamishina Yui Kobatake Tofazzal Md Rakib Martia Rani Tacharina Osamu Yamato Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate Animals canine <i>SOD1</i> gene degenerative myelopathy dog breeding German Shepherd Dog mutant allele frequency disease prevention |
| title | Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate |
| title_full | Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate |
| title_fullStr | Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate |
| title_full_unstemmed | Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate |
| title_short | Molecular Epidemiological Survey for Degenerative Myelopathy in German Shepherd Dogs in Japan: Allele Frequency and Clinical Progression Rate |
| title_sort | molecular epidemiological survey for degenerative myelopathy in german shepherd dogs in japan allele frequency and clinical progression rate |
| topic | canine <i>SOD1</i> gene degenerative myelopathy dog breeding German Shepherd Dog mutant allele frequency disease prevention |
| url | https://www.mdpi.com/2076-2615/12/13/1647 |
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