Basic information of Ndufa6 :

Official Symbol of Gene	Ndufa6
Species	Mus musculus
Entrez Gene ID	67130
Official Full Name	NADH:ubiquinone oxidoreductase subunit A6
Also known as	14kDa; 2700038D15Rik; B230217P19Rik
Gene Type	protein coding
dbXrefs	Ensembl:ENSMUSG00000022450 AllianceGenome:MGI:1914380
Map Location	15; 15 E1
Drug	complex I subunit gene therapy with NDUFA6(scAAV6-NDUFA2Flag)
Interaction Type	activator

Sample information of multiple sclerosis:

Descent	DBA/1J mice
Disease	EAE

Literature information of multiple sclerosis :

Pubmed ID	25613946
Year	2015
Title	Complex I subunit gene therapy with NDUFA6 ameliorates neurodegeneration in EAE

Results of multiple sclerosis :

Result

Overexpression of NDUFA6Flag rescues the EAE-mediated visual dysfunction , EAE-mediated RGC loss , RNFL thinning , EAE axonal degeneration,RGC apoptosis and rescues EAE-mediated complex I dysfunction.NDUFA6 gene therapy provided long-term suppression of neurodegeneration in the EAE animal model suggesting that it may also ameliorate the mitochondrial dysfunction associated with permanent disability in optic neuritis and MS patients.

Mechanism/pathway

Mitochondrial dysfunction is recognized as one of the major contributing factors associated with neuronal and axonal loss in MS.It is a major target for damage induced by oxidative stress. Overall, it is believed that mitochondrial NDUFA6 is a crucial member in normal functioning of mitochondrial complex I and any alterations to this subunit adversely impacts respiratory chain function and ultimately cell viability.