Abstract | BACKGROUND: METHODS: RESULTS: We identified 165 significantly (p < 0.05) elevated autoantibodies in Moyamoya Disease, including those against CAMK2A, CD79A and EFNA3. Pathway analysis associated these autoantibodies with post-translational modification, neurological disease, inflammatory response, and DNA damage repair and maintenance. Using the novel functional interpolating single-nucleotide polymorphisms bioinformatics approach, we identified 6 Moyamoya Disease-associated autoantibodies against APP, GPS1, STRA13, CTNNB1, ROR1 and EDIL3. The expression of these 6 autoantibodies was validated by custom-designed reverse ELISAs for an independent group of Moyamoya Disease patients compared to patients with other cerebrovascular diseases. CONCLUSIONS: We report the first high-throughput analysis of autoantibodies in Moyamoya Disease, the results of which may provide valuable insight into the immune-related pathology of Moyamoya Disease and may potentially advance diagnostic clinical tools.
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Authors | Tara K Sigdel, Lorelei D Shoemaker, Rong Chen, Li Li, Atul J Butte, Minnie M Sarwal, Gary K Steinberg |
Journal | Orphanet journal of rare diseases
(Orphanet J Rare Dis)
Vol. 8
Pg. 45
(Mar 21 2013)
ISSN: 1750-1172 [Electronic] England |
PMID | 23518061
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Autoantibodies
- Immunoglobulin G
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Topics |
- Adolescent
- Adult
- Aged
- Antibody Specificity
- Autoantibodies
(blood)
- Cerebral Angiography
- Cerebrovascular Disorders
(diagnostic imaging, immunology, physiopathology)
- Computational Biology
(methods)
- Female
- Humans
- Immunoglobulin G
(blood)
- Male
- Middle Aged
- Moyamoya Disease
(diagnostic imaging, immunology, physiopathology)
- Protein Array Analysis
(methods)
- Protein Processing, Post-Translational
- Young Adult
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