GEO series
RNA-seq of a Leigh Syndrome patient blood being treated with Omaveloxolone
GSE306316
Homo sapiens
Expression profiling by high throughput sequencing
24 samples
2026/08/01
GPL34284
Summary
A patient diagnosed with Leigh Syndrome due to a compound heterizygous mutation in SURF1 (SURF1 c.312_321delinsAT (p.L105X); c.-13_11del24) was prescribed Omaveloxolone under physican supervision. Pre-treatment patient blood showed deficiency in pathways associated with oxidative phosphorylion and cellular energetics. Omaveloxolone normalized this phenotype via enrichment of these pathways. Enrichment of these pathways could be due to up-regulation of the master transcription factor PPARGC1A.
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