公开(公告)号：US20240117436A1

公开(公告)日：2024-04-11

申请号：US18516241

申请日：2023-11-21

Applicant: MAGI EUREGIO SCS

Inventor： Matteo BERTELLI ,  Elena MANARA ,  Paolo Enrico MALTESE ,  Sandro MICHELINI ,  Serena MICHELINI ,  Maria Rachele CECCARINI ,  Pietro CHIURAZZI ,  Karen Louise HERBST ,  Jurgen KAFTALLI ,  Kevin DONATO ,  Andrea BERNINI

IPC: C12Q1/6883 ,  A61K31/5517 ,  G01N33/74

CPC classification number: C12Q1/6883 ,  A61K31/5517 ,  G01N33/743 ,  C12Q2600/106 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N2800/52

Abstract: The present invention identifies further to AKR1C1 also AKR1C2 as a lipedema-associated gene. The invention provides methods for diagnosing or assessing an individual's susceptibility to lipedema by the analysis of the AKR1C genes, in particular of the AKR1C2 gene, or the expression levels of its product and related metabolites. Also provided are therapeutic methods for treating a patient or methods for prophylactically treating an individual susceptible to lipedema.