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Hundreds of SORL1 Variants Mapped in Alzforum Database; SORL1 Cast as Causal AD Gene

The endocytic receptor SORL1 has come to fruition both literally and figuratively. An interactive diagram of the 2,214 amino acid behemoth—filled with findings about hundreds of rare variants—is live for viewing on the Alzforum Mutations database. A handful of fresh studies point to rare missense mutations in the gene as root causes for Alzheimer’s disease. The findings cast SORL1 as an important familial AD gene, and offer clinicians tools to screen for the most damaging variants. Shout-outs to Olav Andersen, Henne Holstege, and the Alzforum database team.