Transcriptome level analysis in Rett syndrome using human samples from different tissues

Table 2 Summary of the gene expression evidence for changes in mitochondrial functioning genes identified by transcriptomic analyses in human Rett Syndrome tissues

Mitochondrial Functioning Genes
Gene	Expression	Tissue	Gene	Expression	Tissue
COX6C ⁵	↑	PBMC	COX6C ⁵	↑	PBMC
COX7A12 ⁵	↑	PBMC	ETFA ⁵	↑	PBMC
COX7C ⁵	↑	PBMC	UQCRQ ⁵	↑	PBMC
COX8A ⁵	↑	PBMC	TIMM10 ⁵	↑	PBMC
COX14 ⁵	↑	PBMC	TSPO ⁵	↑	PBMC
URCRQ ⁵	↑	PBMC	TOMM7 ⁵	↑	PBMC
UQCRFS1 ⁵	↑	PBMC	MT-CO1 ³	↓	FC
UQCRH ⁵	↑	PBMC	MRPS33 ^5,7	↑	RTT-IPS & PBMC
SDHB ⁵	↑	PBMC	NR3C1 ⁷	↑	RTT-IPS
NDUFV2 ⁵	↑	PBMC
NDUFS4 ⁵	↑	PBMC
NDUFA9 ⁵	↑	PBMC
NDUFS6 ⁵	↑	PBMC
NDUFB10 ⁵	↑	PBMC
NDUFB4 ⁵	↑	PBMC
NDUFC2 ⁵	↑	PBMC
NDUFS5 ⁵	↑	PBMC
NDUFC1 ⁵	↑	PBMC
NDUFB9 ⁵	↑	PBMC
NDUFA8 ⁵	↑	PBMC
NDUFAB1 ⁵	↑	PBMC
NDUFA2 ⁵	↑	PBMC
NDUFB6 ⁵	↑	PBMC
ATP5A1 ⁵	↑	PBMC

Colantuoni et al. [23]¹, Deng et al. [24]², Gibson et al. [25]³, Lin et al. [26]⁴, Pecorelli et al. [34]⁵, Colak et al. [14], Tanaka et al. [47]⁷. FC Frontal Cortex, PC Parietal Cortex TC Temporal Cortex, WB Whole Blood, PBMC Peripheral Blood Lymphmonocytes, RTT-IPS Rett patient derived Induced pluritpotent Stem cells

ISSN: 1750-1172