Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants.

OBJECTIVES: Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disease in cats. In most cases, the responsible abnormality is a nonsense single nucleotide polymorphism in exon 29 of the PKD1 gene (chrE3:g.42858112C>A, the conventional PKD1 variant). The aim of this study was to conduct a large-scale epidemiological study of ADPKD caused by the conventional PKD1 variant in Japan and to search for novel polymorphisms by targeted resequencing of the PKD1 using a next-generation sequencer. METHODS: A total of 1281 cats visiting the Veterinary Medical Center of the University of Tokyo were included in this study. DNA was extracted from the blood of each cat. We established a novel TaqMan real-time PCR genotyping assay for the conventional PKD1 variant, and all cases were examined for the presence of this variant. Targeted resequencing of all exons of the PKD1 was performed on the DNA of 23 cats with the conventional PKD1 variant, six cats diagnosed with cystic kidneys but without this variant, and 61 wild-type normal cats. RESULTS: Among the 1281 cats examined in this study, 23 (1.8%) harboured the conventional PKD1 variant. The odds of having the conventional PKD1 variant were significantly higher in Persian cats, Scottish Folds and Exotic Shorthairs than in the other breeds, although the number of cases in each breed was small. Furthermore, we identified four variants unique to cats with cystic kidneys that were not found in wild-type normal cats, all of which were in exon 15. In particular, two (chrE:g.42848725delC, pGly1641fs and chrE:g.42850283C>T, pArg2162Trp) were candidate variants. CONCLUSIONS AND RELEVANCE: This study revealed that the conventional PKD1 variant was prevalent in Scottish Fold, Persian and Exotic Shorthair breeds in Japan, and variants in exon 15 of PKD1, in addition to the conventional variant in exon 29, would be key factors in the pathogenesis of ADPKD in cats.

The presence of adhesion factors NOX, α-enolase, TrmFO, P27, and VpmaX in Mycoplasma bovis wild isolates in Japan.

Background: Mycoplasma bovis causes various diseases such as bronchopneumonia, otitis media, arthritis, and mastitis in cattle. Mycoplasma bovis is often isolated from the deep pharynges of healthy cattle and is generally considered not to cause clinical symptoms while in the upper respiratory tract. In mycoplasma infections, adhesion to the host cells is a crucial step. In recent years, five new adhesins, NOX, α-enolase, TrmFO, P27, and VpmaX, have been reported in M. bovis strains from pneumonia cases. However, the presence of these adhesins in wild isolates has not been established. Aim: This study aimed to investigate the presence of these adhesin genes in wild isolates isolated from cattle nasal cavities and lesion sites (pneumonia, otitis media, arthritis, and mastitis) in various regions in Japan and clarify the relationship between adhesion and the symptoms caused by M. bovis infection. Methods: A total of 141 M. bovis wild isolates isolated from nasal cavities (healthy or sick cattle), lungs with pneumonia, ears with otitis media, joint fluids of arthritic animals, and milk of mastitic animals. Mycoplasma bovis type strain PG45 was also used. Specific polymerase chain reaction reactions were performed to detect nox, α-enolase, trmFO, P27, and vpmaX, which are adhesins of M. bovis. Results: This study reports 139 M. bovis wild isolates were positive for nox, α-enolase, trmFO, P27, and vpmaX, while two isolates each lacked α-enolase or P27 genes. Mycoplasma bovis PG45 also had all five adherens genes. Conclusion: Almost all M. bovis wild isolates possessed all nox, α-enolase, trmFO, P27, and vpmaX genes regardless of the lesion site or region of origin. This means no relationship was found between the presence of the five adhesins and lesion sites in M. bovis and M. bovis isolated from the nasal cavities of asymptomatic cattle have the same numbers and types of adhesins as isolates from symptomatic lesion sites (pneumonia, otitis media, arthritis, and mastitis). This suggests that not only M. bovis isolates from pulmonary lesions, but also M. bovis existing in the nasal cavity has the potential to causes symptoms in the host.