PLX114689

GSE97156: RNA-seq of overgrown interscapular adipose tissue with biallelic MFN2 mutations

  • Organsim human
  • Type RNASEQ
  • Target gene
  • Project ARCHS4

Mitofusin 2 (MFN2) mutations previously associated with axonal neuropathy have recently been found in patients with upper body overgrowth of adipose tissue. RNA-seq was performed on two of these patients with biallelic MFN2 mutations. The transcriptome demonstrated increased mitochondrial stress signaling, increased cell survive and decreased cell death signatures, and increased protein synthesis. SOURCE: David,A,Bulger (dab68@cam.ac.uk) - Robert Semple University of Cambridge

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