SGLT2 inhibitor ameliorates endothelial dysfunction associated with the common ALDH2 alcohol flushing variant

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Hongchao Guo
  • Xuan Yu
  • Yu Liu
  • David T. Paik
  • Mark Chandy
  • James W.S. Jahng
  • Tiejun Zhang
  • Weijun Wu
  • Freeborn Rwere
  • Shane Rui Zhao
  • Suman Pokhrel
  • Rabindra V. Shivnaraine
  • Souhrid Mukherjee
  • Daniel J. Simon
  • Amit Manhas
  • Angela Zhang
  • Che Hong Chen
  • Manuel A. Rivas
  • Eric R. Gross
  • Daria Mochly-Rosen
  • Joseph C. Wu

The common aldehyde dehydrogenase 2 (ALDH2) alcohol flushing variant known as ALDH2*2 affects ∼8% of the world's population. Even in heterozygous carriers, this missense variant leads to a severe loss of ALDH2 enzymatic activity and has been linked to an increased risk of coronary artery disease (CAD). Endothelial cell (EC) dysfunction plays a determining role in all stages of CAD pathogenesis, including early-onset CAD. However, the contribution of ALDH2*2 to EC dysfunction and its relation to CAD are not fully understood. In a large genome-wide association study (GWAS) from Biobank Japan, ALDH2*2 was found to be one of the strongest single-nucleotide polymorphisms associated with CAD. Clinical assessment of endothelial function showed that human participants carrying ALDH2*2 exhibited impaired vasodilation after light alcohol drinking. Using human induced pluripotent stem cell-derived ECs (iPSC-ECs) and CRISPR-Cas9-corrected ALDH2*2 iPSC-ECs, we modeled ALDH2*2-induced EC dysfunction in vitro, demonstrating an increase in oxidative stress and inflammatory markers and a decrease in nitric oxide (NO) production and tube formation capacity, which was further exacerbated by ethanol exposure. We subsequently found that sodium-glucose cotransporter 2 inhibitors (SGLT2i) such as empagliflozin mitigated ALDH2*2-associated EC dysfunction. Studies in ALDH2*2 knock-in mice further demonstrated that empagliflozin attenuated ALDH2*2-mediated vascular dysfunction in vivo. Mechanistically, empagliflozin inhibited Na+/H+-exchanger 1 (NHE-1) and activated AKT kinase and endothelial NO synthase (eNOS) pathways to ameliorate ALDH2*2-induced EC dysfunction. Together, our results suggest that ALDH2*2 induces EC dysfunction and that SGLT2i may potentially be used as a preventative measure against CAD for ALDH2*2 carriers.

OriginalsprogEngelsk
Artikelnummereabp9952
TidsskriftScience Translational Medicine
Vol/bind15
Udgave nummer680
ISSN1946-6234
DOI
StatusUdgivet - 2023
Eksternt udgivetJa

ID: 334954440