Glucose-6-phosphate dehydrogenase variants modify 3D genomic organization to suppress maladaptive gene expression and vascular disease

Christina Signoretti, Shun Matsumura, Melinee D’silva, Comfort Williams, Brenden Marshall, Samuel Fatehi, Rhonda Drewes, Abby L Grier, Monika Dzieciatkowska, Angelo D’Alessandro, Yongho Bae, Sachin A Gupte · 2026

Read Glucose-6-phosphate dehydrogenase variants modify 3D genomic organization to suppress maladaptive gene expression and vascular disease by Christina Signoretti, Shun Matsumura, Melinee D’silva, Comfort Williams, Brenden Marshall, Samuel Fatehi, Rhonda Drewes, Abby L Grier, Monika Dzieciatkowska, Angelo D’Alessandro, Yongho Bae, Sachin A Gupte (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13400228.txt.

Description

Christina Signoretti and colleagues showed that an enzyme variant can reshape chromosome folding in blood vessels and protect against vascular disease. Their 2026 study uses CRISPR-engineered rats modeling two human glucose-6-phosphate dehydrogenase variants: a deficient S188F form and a non-deficient N126D form. How three-dimensional genome structure controls vessel gene activity had been poorly mapped.

Only the deficient variant altered aortic genome folding, raising TET enzymes and anti-growth genes while suppressing inflammatory, clotting, and scarring genes. That pattern reduced angiotensin-induced aortic stiffness and high blood pressure. The deficient enzyme interacted with the scaffold protein MATRIN-3 and enriched a histone mark linked to genome structure. The paper links metabolism, genome folding, and vessel health, with human relevance still to confirm.

Catalog record

CREATORChristina Signoretti, Shun Matsumura, Melinee D’silva, Comfort Williams, Brenden Marshall, Samuel Fatehi, Rhonda Drewes, Abby L Grier, Monika Dzieciatkowska, Angelo D’Alessandro, Yongho Bae, Sachin A Gupte
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE79 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13400228

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