Mitochondrially Encoded NADH Dehydrogenase 1 (MT-ND1) ELISA试剂盒

Human Mitochondrially Encoded NADH Dehydrogenase 1 (MT-ND1) interaction partners

1. Our study suggests to include haplogroup T as a possible genetic background influencing LHON penetrance and to consider the increase of mtDNA copy number as a protective factor from vision loss regardless the hetero/homoplasmic status of LHON primary mutations.

2. the abnormal stable complex of FUS-R521C/PRMT1/Nd1-L mRNA could contribute to neurodegeneration upon oxidative stress.

3. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics.

4. In this study, 27.5% mutation was detected in North Indian LHON families. These results suggest that m.G11778A mutation is more frequent in this population. The results of the present study are compatible with studies of an Asian population and Northern European population.

5. The MT-ND1 m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis.

6. the MT-ND1 gene is a hot spot for mutations associated with LHON.

7. The present systematic review and meta-analysis suggest that mtDNA T4216C variation is a contributory factor in susceptibility to Multiple Sclerosis

8. ND1 genetic polymorphisms associated with breast cancer in Mizoram mongloid population.

9. The m.3472T>C substitution in mtDNA could be associated with risk of Leber's hereditary optic neuropathy. It was also found that this mutation led to dysfunction of respiratory chain complex I and decreased membrane potential, but reactive oxygen species level in the cells was within normal range

10. The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene in the Iranian population.

11. The present analysis reveals a high number (358) of mtDNA alterations and a significant decrease in complex I activity in the FTLD population.

12. MT-NDA1 new genetic mutation was found in patients with multiple congenital cardiac abnormalities.

13. respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis; these mitochondrial dysfunctions caused an increase in production of reactive oxygen species in the mutant cybrids; data provide direct evidence for the m.3635G>A mutation leading to Leber's hereditary optic neuropathy

14. ND1 T3866C mutation is associated with Chinese families with Leber's hereditary optic neuropathy.

15. To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation.

16. These results demonstrate that the energetic impairment caused by the almost homoplasmic m.3571insC mutation perturbs cellular metabolism leading to a decreased steady state level of components of very important mitochondrial NAD-dependent dehydrogenases.

17. m.3460G>A/MT-ND1 mutation caused only a reduction in mitochondrial complex I(CI) activity, whereas the m.3571insC/MT-ND1 and the m.3243A>G/MT-TL1 mutations induced a severe structural and functional CI alteration.

18. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.

19. In Sherpa people, 2 mutations are ND1 mutants. One of them was reported as the primary mutation for Leber's hereditary optic neuropathy suggesting a certain effect on Complex I function and might be important in the altitude adaptation for Sherpa people.

20. we describe here a heteroplasmic mutation in the MT-ND1 gene that strongly suggest to cause epileptic encephalopathy: West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome.