anti-Mitochondrially Encoded NADH Dehydrogenase 5 (MT-ND5) Antikörper

Human Mitochondrially Encoded NADH Dehydrogenase 5 (MT-ND5) Interaktionspartner

1. In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using whole-exome sequencing.

2. MT-ND5 mutation exhibits highly variable neurological manifestations.

3. Data suggest that mutations in MT-CO2 and MT-ND5 can be involved in MIDD (maternally inherited diabetes and deafness); a Tunisian family (mother, daughter, son) with clinical features of MIDD associated with retinopathy exhibit mutations in MT-CO2 (m.8241T>G - p. F219C) and MT-ND5 (m.13276G>A - p. M314V); these two mutations could explain retinopathy in some family members. (MT-CO2 = cytochrome c oxidase subunit II)

4. A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family

5. We describe a unique presentation Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl.

6. FASTKD4 is required to promote expression of ND5. FASTKD4 may promote processing of ND5-CYB precursor or it may stabilize multiple mature RNAs including ND5.

7. The m.13565C>T mutation in MTND5 causes defects in both mitochondrial oxidative metabolism and mitochondrial calcium sequestration in a MELAS syndrome fibroblasts.

8. Mitochondrially encoded NADH dehydrogenase subunit, complex I extracts energy from NADH, produced by the oxidation of sugars and fats, and traps the energy in a potential difference or voltage across the mitochondrial inner membrane.

9. Study demonstrates a link between p53 and Bcl-2 proteins as regulators of ROS production and cellular invasiveness, and reveals complex-I, especially ND5, as their functional target in lung tumor cells.

10. Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8, MT-ND4 and MT-ND5 genes.

11. Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.

12. Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree

13. Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression in association with EGFR gene mutation.

14. Several lines of evidence suggest that the mitochondrial ND5T12338C mutation is associated with Leber's hereditary optic neuropathy (LHON) in Chinese families.

15. ND4 G11696A and ND5 T12338C mutation is likely associated with Leber's hereditary optic neuropathy in two Chinese families

16. Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome.

17. these results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations.

18. One proband had a non-synonymous A14062G mutation in the ND5 gene.

19. This study conclude that the G13513A mutation causes a complex I defect when present at unusually low mutant load and may act dominantly.

20. A 13513G->A transition in ND5 was identified in a 4-year-old Italian boy atypical Leigh syndrome patient