Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.010 Biomarker group BEFREE Human MSTO1 is involved in the regulation of mitochondrial distribution and morphology and its unregulated expression leads to mitochondrial disorder. 30684668 2020
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
0.010 Biomarker group BEFREE These data indicate that mitochondrial impairment replicates all the major steps of Wallerian degeneration, placing it upstream of NMNAT2 loss, with the potential to contribute to axon pathology in mitochondrial disorders. 31740269 2020
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
0.010 Biomarker group BEFREE Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. 30909120 2019
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
0.010 GeneticVariation group BEFREE Thus, AFG3L2 variants should be considered in both slowly progressive ataxias and phenotypes with clinical features reminiscent of mitochondrial disease. 31111429 2019
Entrez Id: 94233
Gene Symbol: OPN4
OPN4
0.010 Biomarker group BEFREE By comparison, patients with optic nerve disease (e.g., glaucoma or ischemic optic neuropathy, but not mitochondrial disease) show impaired pupillary responses during continuous exposure to bright blue-light stimuli, and a reduced post-illumination pupillary response after light offset, used to assess melanopsin function. 30809186 2019
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
0.010 Biomarker group BEFREE These findings support the continued clinical evaluation of EPI-743 as a therapeutic agent for PCH6 and other mitochondrial diseases with associated epilepsy. 30921410 2019
Entrez Id: 3065
Gene Symbol: HDAC1
HDAC1
0.010 Biomarker group BEFREE The present results suggest that the inhibition of HDAC1 suppresses the pathogenic processes that lead to the degeneration of motoneurons in mitochondrial diseases. 31614134 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.010 Biomarker group BEFREE In a patient-derived xenograft (PDX) model of colon cancer, treatment with mefloquine resulted in suppression of mitophagic PINK1/PARKIN and increased mitochondrial disorder and mitochondria-induced apoptosis without apparent side effects. 30765602 2019
Entrez Id: 55669
Gene Symbol: MFN1
MFN1
0.010 GeneticVariation group BEFREE Mutations within Mfn1 or Mfn2 impair mitochondrial fusion and lead to some severe mitochondrial dysfunctions and mitochondrial diseases (MDs). 31609634 2019
Entrez Id: 1869
Gene Symbol: E2F1
E2F1
0.010 Biomarker group BEFREE Collectively, these data identify the E2F1-MFN2 axis as a regulator of mitochondrial morphology and mitophagy, suggesting a potential therapeutic target for the treatment of mitochondrial disorders. 31276298 2019
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
0.010 Biomarker group BEFREE Our findings expand the phenotypic spectrum of TSFM-related encephalopathy, offering new insights into the natural history of brain involvement and suggesting that TSFM should be investigated in pediatric mitochondrial disorders with distinctive neurologic and cardiac involvement. 31267352 2019
Entrez Id: 3162
Gene Symbol: HMOX1
HMOX1
0.010 AlteredExpression group BEFREE Thus, our findings indicate that ALA/SFC is effective in elevating OXPHOS, HO-1 protein, and mtDNA copy number, resulting in an increase in OCR and ATP levels, which represents a promising therapeutic option for mitochondrial diseases. 31332208 2019
Entrez Id: 2308
Gene Symbol: FOXO1
FOXO1
0.010 Biomarker group BEFREE FoxO1-miRNA interacting networks as potential targets for mitochondrial diseases. 30367995 2019
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
0.010 GeneticVariation group BEFREE Patient 4 with a prior diagnosis of non-alcoholic steatohepatitis was found to harbor a mitochondrial disorder due to a homozygous pathogenic variant in NDUFB3; this finding enabled initiation of disease preventive measures including supplementation with antioxidants. 31000363 2019
Entrez Id: 28957
Gene Symbol: MRPS28
MRPS28
0.010 Biomarker group BEFREE Thus, MRPS28 joins the increasing number of nuclear genes encoding mitoribosomal structural proteins linked to mitochondrial disease. 30566640 2019
Entrez Id: 51142
Gene Symbol: CHCHD2
CHCHD2
0.010 GeneticVariation group BEFREE Importantly, a specific mitochondria-targeted peptide, Elamipretide/MTP-131, now tested in phase 3 clinical trials for mitochondrial diseases, was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q, suggesting that Elamipretide is able to attenuate CHCHD2 R145Q-induced mitochondria dysfunction. 30496485 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.010 Biomarker group BEFREE We suggest that CSF NF-L may be used in both clinical and research settings for monitoring the neurodegenerative process in mitochondrial disease. 30004022 2019
Entrez Id: 1660
Gene Symbol: DHX9
DHX9
0.010 Biomarker group BEFREE In conclusion, despite their promising potential to rescue CI defects, due to a possible competition with remaining CI activity, plant NDH-2 should be regarded with caution as potential therapeutic tools for human mitochondrial diseases. 31665043 2019
Entrez Id: 5670
Gene Symbol: PSG2
PSG2
0.010 Biomarker group BEFREE Moreover, administration of PSG-1 suppressed DOX-induced mitochondrial disorders, which was evidenced by reducing reactive oxygen species, elevating mitochondrial membrane potential and inhibiting the opening of mitochondrial permeability transition pore. 30287039 2018
Entrez Id: 5669
Gene Symbol: PSG1
PSG1
0.010 Biomarker group BEFREE Moreover, administration of PSG-1 suppressed DOX-induced mitochondrial disorders, which was evidenced by reducing reactive oxygen species, elevating mitochondrial membrane potential and inhibiting the opening of mitochondrial permeability transition pore. 30287039 2018
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 AlteredExpression group BEFREE Furthermore, fibroblasts derived from patients with mitochondrial disorders also showed low expression of ERK5 and NRF2 mRNAs. 29743487 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
0.010 Biomarker group BEFREE Expanding the clinical phenotype of IARS2-related mitochondrial disease. 30419932 2018
Entrez Id: 5598
Gene Symbol: MAPK7
MAPK7
0.010 AlteredExpression group BEFREE Furthermore, fibroblasts derived from patients with mitochondrial disorders also showed low expression of ERK5 and NRF2 mRNAs. 29743487 2018
Entrez Id: 56947
Gene Symbol: MFF
MFF
0.010 GeneticVariation group BEFREE NGS-based analysis of a gene panel for mitochondrial disorders revealed a homozygous c.892C>T (p. Arg298<sup>*</sup>) in the <i>MFF</i> gene. 30581454 2018
Entrez Id: 5676
Gene Symbol: PSG7
PSG7
0.010 Biomarker group BEFREE Moreover, administration of PSG-1 suppressed DOX-induced mitochondrial disorders, which was evidenced by reducing reactive oxygen species, elevating mitochondrial membrane potential and inhibiting the opening of mitochondrial permeability transition pore. 30287039 2018