RNA-seq of overgrown interscapular adipose tissue with biallelic MFN2 mutations. Homo sapiens

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. Overall design: RNAseq of interscapular subcutaneous adipose tissue from two patients with MSL (3 samples each) and five otherwise healthy volunteers (2-3 samples each for a total of 14 control samples) undergoing corrective surgery for idiopathic scoliosis.