A de novo missense mutation aggravates Behcet's disease through trio-based whole-exome sequencing analyzing.
Accept poster if oral is not possible ?
Yes
Purpose
Behçet disease is considered as an autoinflammatory disease, which is triggered by environmental and genetic factors in genetically predisposed individuals. This disease is characterized by perennial oral and genital aphthous ulcers and ocular impairment, which affects multiple organ systems.To investigate the genetic etiology of Behcet's disease, we have included several patients with severe ocular damage with multi-system damage, and sequenced the whole exons of genetic samples from them and their unaffected parents to try to explain the etiology of Behçet disease from a genetic perspective.
Methods
trio-based whole-exome sequencing analyzing and Sanger sequencing included several patients and their unaffected parents from the Han Chinese population. RNA-seq, DIA and other experience methods were used
Results
In this research, we have found several de novo mutations. To verify this mutation, we have conducted mutation type in cells, which is pathogenic compared to the wild-type gene cells. In vivo, we have constructed the experimental autoimmune uveitis to mimic Behcet's disease in ophthalmology both in the gene-mutation mice and the wild-type mice, and found that the gene mutation mice showed more severe symptoms in ophthalmology compared to the wild-type mice. Subsequently, we have found that the downstream of the mutation gene through high-throughput sequencing. Rescue experiments were conducted to illuminate its function how the downstream gene affected and finally influenced the Behcet's disease symptoms.
Conclusion
We found that a gene mutation have aggravated the Behcet disease, which may provide a new potential treatment target and a new clinical indicator of Behcet disease.
Conflict of interest
Yes
Details of conflicting interests
There is no potential confilct of interest was reported by the authors
1
Last name
ZHOU
Initials of first name(s)
QIAN
Department
The first affiliated hospital of Chongqing medical university
City
Chongqing
Country
China
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