Sánchez-Campillo · International journal of molecular sciences 2019 · case-control study · n=133 participants and 22 postmortem brain samples

Decreased Blood Level of MFSD2a as a Potential Biomarker of Alzheimer's Disease.

Cited 28 times in the scientific literature.

Level 4 - case-series / case-control

Case-control study comparing blood biomarkers and postmortem brain tissue between AD patients and healthy controls.

PubMed 31861865 · doi:10.3390/ijms21010070 · record verified 2026-08-30

What was done

Researchers evaluated the docosahexaenoic acid (DHA) carrier protein MFSD2a in blood and postmortem brain tissue from Alzheimer's disease (AD) patients and controls. Blood samples were collected from 133 living participants: 38 healthy controls, 48 individuals with moderate AD (GDS4), and 47 with severe AD (GDS6). Postmortem hippocampal brain samples were analyzed from 11 healthy controls and 11 severe AD patients. Serum and brain fatty acid profiles were quantified using gas chromatography, and MFSD2a protein expression was determined using Western blotting.

What was found

Whole-blood MFSD2a protein expression showed a significant, progressive decline across disease severity: Control 0.83 ± 0.13, GDS4 0.72 ± 0.09, and GDS6 0.48 ± 0.05 (p < 0.01). Serum DHA and other n-3 long-chain polyunsaturated fatty acids were also significantly reduced in AD patients. However, no significant differences were observed in MFSD2a protein expression or fatty acid levels within postmortem hippocampal brain samples between AD patients and controls.

Why it matters

This provides initial evidence that peripheral blood levels of the brain DHA transporter MFSD2a decline as Alzheimer's disease advances, indicating its potential utility as a non-invasive peripheral biomarker.

Limits

The study used a cross-sectional case-control design, which cannot establish whether MFSD2a reduction is a cause or consequence of disease progression. The postmortem brain cohort was very small (11 per group) and limited to a single brain region (hippocampus). The abstract lacks details on dietary DHA intake, longitudinal follow-up, or diagnostic specificity compared to other neurodegenerative dementias.

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