| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Outline of Final Research Achievements |
The aim of this research is to clarify the molecular pathogenesis of neuroaxonal dystrophy (NAD) in Papillon dogs. First, we carried out whole exome sequencing analysis against three NAD cases and five unaffected control Papillon dogs, and identified 10 candidate mutations. Among them, three candidates were determined to be “deleterious” by in silico pathogenesis evaluation, and only the PLA2G6 c.1579G>A mutation had an association with the presence or absence of the disease, suggesting that it may be a causal mutation of canine NAD. Although we performed massive screening mutation analysis, we could not expose any mutation-carrier dog, as the mutation penetrance was assumed to be extremely low. Further histopathological research revealed accumulation of autophagy-related proteins in the lesion, indicating aberrance in autophagy mechanism.
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