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Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling.

Balram NeupaneKabita PradhanAudrey Magdalena Ortega-RamirezParwez AideryVytautas KucikasMatthias MarksMarc A M J van ZandvoortKarin KlingelKlaus K WitteStefan GründerNikolaus MarxMichael Gramlich
Published in: Journal of personalized medicine (2022)
We have successfully generated the first in vitro model to recapitulate a patient-specific LMNA E161K mutation which leads to a severe form of DCM. The model may serve as a template for individualized and specific treatment of heart failure.
Keyphrases
  • heart failure
  • muscular dystrophy
  • case report
  • left ventricular
  • atrial fibrillation
  • mass spectrometry
  • molecularly imprinted
  • replacement therapy
  • smoking cessation
  • simultaneous determination