Fragile X Syndrome Multi-Omics Biomarker Data from Plasma and PBMCs

Marwa Zafarullah's integrated multi-omics dataset profiles plasma metabolites and proteins from Fragile X-associated tremor/ataxia syndrome (FXTAS) participants and healthy controls. The data includes results from plasma metabolomics and proteomics analyses of 5 FXTAS participants and 15 age-matched controls, published on figshare in April 2026. It reveals molecular differences in energy metabolism, lipids, and proteins related to mitochondrial function and immune signaling.

Use Cases

• Identify candidate protein biomarkers for FXTAS based on proteomic analyses of plasma and PBMCs.
• Analyze alterations in lipid metabolism pathways based on lipidomics data mentioned in the description.
• Investigate correlations between metabolite levels and clinical disease stage based on the integrated multi-omics profiling.
• Explore mitochondrial dysfunction signatures in FXTAS based on proteomic pathway analysis results.

Strengths

• Integrated multi-omics data combining plasma metabolomics and proteomics from two biological matrices (plasma and PBMCs).
• Includes data from 5 FXTAS participants and 15 age-matched healthy controls for comparative analysis.
• Released under a permissive CC-BY-4.0 license, facilitating reuse and redistribution.

Limitations

• Small sample size of 5 FXTAS participants, which may limit statistical power and generalizability.
• Row count and column-level documentation are unknown; field semantics must be inferred after download.
• Cross-sectional study design limits the ability to infer causal relationships or track disease progression.

Provenance

Source

figshare, author Marwa Zafarullah.

Collection Method

Integrated multi-omics study combining plasma metabolomics (lipidomics, amine, primary metabolites) with proteomics analyses.

Freshness

Last updated 2026-04-17 05:08:38.