Identification of genetic diseases of aged companion animals

2015 Fiscal Year Final Research Report

• Project/Area Number: 26660242
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• 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(Renkei-kenkyūsha): KAWASAKI Yasuaki 鹿児島大学, 農水産獣医学域獣医学系, 教授 (50211181) ; YABUKI Akira 鹿児島大学, 農水産獣医学域獣医学系, 准教授 (10315400) ; MIURA Naoki 鹿児島大学, 農水産獣医学域獣医学系, 准教授 (80508036)
• Research Collaborator: IWANAGA Tomoko 鹿児島大学, 共同獣医学部・動物病院, 特任助教
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 高齢性慢性疾患 / 遺伝子病

Outline of Final Research Achievements

The objective of this study was to demonstrate that there are many adult-onset chronic genetic diseases in companion animals.
The reference range of canine and feline lysosomal enzymes was established to diagnose several lysosomal diseases. Using high-risk screening, mucopolysaccharidosis was diagnosed in three cats. One case was categorized in type VI by measurement of enzyme activities, and a causative mutation was identified in this cat. Adult-onset neuronal ceroid lipofuscinosis was diagnosed in two dogs. Early-onset hypertrophic cardiomyopathy was diagnosed in a cat.
Molecular epidemiological surveys were performed on feline mucopolysaccharidosis VI, feline pyruvate kinase deficiency, canine progressive retinal atrophy, and canine degenerative myelopathy. As a result, it was demonstrated that these diseases were present at a high frequency in the population of certain breeds, suggesting that these diseases are very important in veterinary clinics of companion animals.

Free Research Field

獣医臨床遺伝学