Elucidation of the molecular basis and development of diagnostic, preventive, and therapeutic methods in animal models of rare neurodegenerative genetic diseases

2020 Fiscal Year Final Research Report

• Project/Area Number: 17H03927
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Veterinary medical science
• Research Institution: Kagoshima University
• Principal Investigator: Yamato Osamu 鹿児島大学, 農水産獣医学域獣医学系, 教授 (80261337)
• Co-Investigator(Kenkyū-buntansha): 矢吹 映 鹿児島大学, 農水産獣医学域獣医学系, 教授 (10315400)
• Project Period (FY): 2017-04-01 – 2021-03-31
• Keywords: 動物遺伝子病 / 神経変性性疾患 / 分子基盤 / 遺伝子型検査 / 疾患モデル動物

Outline of Final Research Achievements

The molecular bases of familial adult-onset canine ataxia, Caroli disease, β-mannosidosis, mucopolysaccharidosis, and Canavan disease in dogs, and Niemann-Pick disease and Pompe disease in cats, were elucidated, and those molecular diagnostic methods were developed.
Genotyping using real-time PCR for two mutations in canine degenerative myelopathy and mutations in GM1 and GM2 gangliosidosis in Shiba dogs is used to reduce the frequency of mutant alleles in related dog populations, and the prevention was achieved.
Long-term treatment studies of canine Lafora disease and degenerative myelopathy have been conducted using dried acetic acid fermented foods, which are expected to alleviate misfolding diseases, and a tendency of myoclonus-suppressing effect in canine Lafora disease has currently been observed.

Free Research Field

獣医臨床遺伝学

Academic Significance and Societal Importance of the Research Achievements

いくつかの神経変性性疾患を含む重大な犬猫の遺伝子病の分子基盤を明らかにし、その分子診断法を開発できた。また、一部の疾患では予防法を確立して実施することにより、実際の犬集団において一定の予防効果を達成できた。さらに、治療試験においては、副作用のない発酵産物を利用することで、一定の期待できる成果が観察されている。これらの研究成果により、犬猫における遺伝的不良形質を未然に予防でき、一部は発症を抑制できるという学術的かつ社会的意義を示すことができた。