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Basic information of MT-ND4 :

Official Symbol of Gene MT-ND4
Species Homo sapiens
Entrez Gene ID 4538
Official Full Name mitochondrially encoded NADH dehydrogenase 4
Also known as MTND4; ND4
Gene Type protein coding
dbXrefs MIM:516003; AllianceGenome:HGNC:7459
Map Location N/A
Variation Type polymorphism
refSNP ID Nt 11353 T>C, Nt 11935 T>C, Nt 12062 C>T

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Filipino
Sample Size 200 MS / 100 healthy subjects

Literature information of multiple sclerosis :

Pubmed ID 25172194
Year 2014
Title Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Our results indicated that the prevalence of ND4 gene variations was significantly higher in patients than in healthy controls.We failed to detect Nt 11353 T>C, Nt 11935 T>C variations in the control group.The Nt 12062 C>T variation in the females of the case group was significantly higher than that in males whereas, there is no significant difference in the prevalence of remnant variations between males and females of the case group.The Nt 12062 C>T variations in the females of the patient group were significantly higher than those in the females of the control group .
Mechanism/Pathway The mitochondria can play fundamental roles in the pathogenesis of MS.Complex I deficiency may contribute to disease susceptibility in MS.