Proteomic and Metabolomic Profiling in Moyamoya Disease: A Systematic Review.
Alfonse J Mazzarella, Samy Sasoun, Ethan Aminov et al.
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In 30 seconds
This systematic review examined human studies using high-throughput proteomic or metabolomic methods on serum or cerebrospinal fluid in Moyamoya disease (MMD). Of 3,071 records identified, 31 studies were included. Across studies, recurring protein findings implicated inflammatory signaling, angiogenesis, and cytoskeletal remodeling; metabolomic patterns included elevated branched-chain amino acids, urea-cycle disruption, and lipid remodeling. The cohorts were predominantly adult, East Asian, and bilateral MMD, with a sample-size-weighted mean age of 40.0 years. The review identifies candidate molecular signatures and pathways, but does not establish their clinical diagnostic or prognostic performance.
Key findings
- The review included 31 studies from 3,071 records identified.
- Recurring protein alterations implicated inflammatory signaling, including CRABP-I, PDGF-BB, IL-7, and complement proteins.
- Proteomic findings also implicated angiogenesis and cytoskeletal remodeling, including VEGF, Ang-2, MMP-9, FLNA, ZYX, and keratins.
- Metabolomic signatures recurrently included elevated branched-chain amino acids, urea-cycle disruption, and lipid remodeling.
Why it matters
MMD pathophysiology remains incompletely understood, and molecular profiling may help clarify processes involved in ischemia and collateral vessel formation. The recurring inflammatory, angiogenic, and metabolic signals provide candidates for further investigation and may eventually complement diagnostic or prognostic assessment. However, the review does not show that these signatures are ready to replace or supplement established diagnostic methods in clinical care.
What to keep in mind
The included studies commonly had small sample sizes, single-center designs, and regional specificity; cohorts were predominantly East Asian, limiting generalizability.