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Smith-Lemli-Opitz Syndrome

New study links neuroinflammation to Smith-Lemli-Opitz syndrome with potential biomarker for treatment

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Astroglial activation occurs in individuals with Smith-Lemli-Opitz syndrome (SLOS), and cerebrospinal fluid (CSF) levels of glial fibrillary acidic protein (GFAP) could serve as a useful biomarker to monitor therapeutic responses, according to a study.

The study found that patients with SLOS had significantly elevated CSF GFAP levels, nearly 4 times higher than in the control group.

The study also reviewed archived CSF samples from a prior clinical trial involving simvastatin, a cholesterol-lowering drug. The results showed a significant reduction in CSF GFAP levels following simvastatin treatment.

The study concluded that more research is needed to explore the role of neuroinflammation in SLOS-related brain issues and cognitive dysfunction, but the current findings confirm astroglial activation in SLOS and suggest that CSF GFAP could be a valuable biomarker for tracking treatment responses.

Reference
Luke RA, Cawley NX, Rahhal S, et al. Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome. Mol Genet Metab. 2024;143(1-2):108570. doi: 10.1016/j.ymgme.2024.108570. Epub ahead of print. PMID: 39244853.

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