Human genetic evidence links serine biosynthesis to diabetic peripheral neuropathy.

Variants in the serine biosynthesis pathway (*PHGDH*/*PSPH*) driving susceptibility to diabetic peripheral neuropathy

This medRxiv multi-population GWAS of diabetic peripheral neuropathy (DPN) identifies variants in serine biosynthesis genes (PHGDH and PSPH) as genetic susceptibility factors. Diabetic individuals carrying these variants show increased DPN risk, suggesting a causal role for serine deficiency and identifying a new potential therapeutic target.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

DPN affects ~50% of diabetic patients with no disease-modifying therapy. A genetic link to the serine/glycine pathway opens concrete therapeutic avenues — serine supplementation is already tested in other inherited neuropathies (CMT4J). This preprint warrants replication but is highly promising.

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 9/10