Gain of function of Malate Dehydrogenase 2 (MDH2) and familial hyperglycemia.
Prapaporn Jungtrakoon ThamtaranaAntonella MarucciLuca PannoneAmélie BonnefondSerena PezzilliTommaso BiaginiPatinut BuranasupkajornTimothy HastingsChristine MendoncaLorella MarselliRosa Di PaolaZuroida AbubakarLuana MercuriFederica AlbericoElisabetta FlexJulian CerònMontserrat Porta-de-la-RivaOrnella LudovicoMassimo CarellaSimone MartinelliPiero MarchettiTommaso MazzaPhilippe FroguelVincenzo TrischittaAlessandro DoriaSabrina PrudentePublished in: The Journal of clinical endocrinology and metabolism (2021)
Our findings suggest a central role of MDH2 in human glucose homeostasis and indicate that gain of function variants in this gene may be involved in the etiology of familial forms of diabetes.