biostudies-literatureJacob SNHLBI NIH HHSNIGMS NIH HHSCSRD VA143-161https://www.ebi.ac.uk/biostudies/studies/S-EPMC10872864biostudies-literatureUnknown134(2)<h4>Background</h4>Single-nucleotide polymorphisms linked with the rs1474868 T allele (<i>MFN2</i> [mitofusin-2] T/T) in the human mitochondrial fusion protein <i>MFN2</i> gene are associated with reduced platelet <i>MFN2</i> RNA expression and platelet counts. This study investigates the impact of MFN2 on megakaryocyte and platelet biology.<h4>Methods</h4>Mice with megakaryocyte/platelet deletion of <i>Mfn2</i> (<i>Mfn2</i>^-/- [<i>Mfn2</i> conditional knockout]) were generated using Pf4-Cre crossed with floxed <i>Mfn2</i> mice. Human megakaryocytes were generated from cord blood and platelets isolated from healthy subjects genotyped for rs1474868. Ex vivo approaches assessed mitochondrial morphology, function, and platelet activation responses. In vivo measurements included endCirculation researchMitofusin-2 Regulates Platelet Mitochondria and Function.PMC10872864I01 CX001696K24 HL155856U54 HL112311K01 GM103806RC2 HL101779R01 HL142804R35 HL145237R01 HL144957Seliger BJJacob SChristiani DCBoudina SMoody VWei YGuo LHull GMoody ATugolukova EAKishimoto NDenorme FBray PFCampbell RARowley JWAbel EDEustes ASTolley NDJu CManne BKHoerger KWeyrich ASKosaka YBhatlekar SRondina MTBenzon HFatahian ANSouvenir RfalseMitofusin-2 Regulates Platelet Mitochondria and Function.<h4>Background</h4>Single-nucleotide polymorphisms linked with the rs1474868 T allele (<i>MFN2</i> [mitofusin-2] T/T) in the human mitochondrial fusion protein <i>MFN2</i> gene are associated with reduced platelet <i>MFN2</i> RNA expression and platelet counts. This study investigates the impact of MFN2 on megakaryocyte and platelet biology.<h4>Methods</h4>Mice with megakaryocyte/platelet deletion of <i>Mfn2</i> (<i>Mfn2</i>^-/- [<i>Mfn2</i> conditional knockout]) were generated using Pf4-Cre crossed with floxed <i>Mfn2</i> mice. Human megakaryocytes were generated from cord blood and platelets isolated from healthy subjects genotyped for rs1474868. Ex vivo approaches assessed mitochondrial morphology, function, and platelet activation responses. In vivo measurements included end2024-01-01T00:00:00Z2024 Jan2026-05-02T14:34:00.989Z2026-04-07T18:07:06.824ZS-EPMC108728643815644510.1161/circresaha.123.32291410.1161/CIRCRESAHA.123.322914