Overview

• The Alzheimer’s & Dementia paper reports that mice carrying the MTHFR677C>T variant developed twisted retinal vessels, narrowed and swollen arteries, and reduced branching as early as six months.
• Retinal abnormalities mirrored cerebrovascular findings in the same model, including fewer cortical vessels and reduced cerebral blood flow, with proteomics indicating shared disruptions in energy production, protein clearance, and vascular support.
• Age and sex influenced outcomes, with female mice showing greater loss of vessel density and branching by 12 months.
• The MTHFR677C>T variant studied is reported to occur in up to about 40% of people, underscoring potential population relevance if human findings align.
• JAX has begun a translational partnership with Northern Light Acadia Hospital in Bangor, Maine to look for comparable retinal signs in patients, with any screening use contingent on human validation and demonstrated predictive value.