Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-ND4L kodiert ein Enzym des Elektronentransportes auf der inneren Mitochondrienmembran. Es ist die Untereinheit 4L des respiratorischen Komplexes I. Das Gen wid von den Nukleotiden 10470-10766 kodiert. Mutationen in diesem Gen können verschiedene mitochondriale Erkrankungen auslösen. Dazu gehören Lebersche Optikusatrophie und kolrektale Tumore. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
| Forschung | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
Hereditäre Optikusneuropathie Leber
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MT-ATP6
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MT-CO1
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MT-CO3
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MT-CYB
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MT-ND1
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MT-ND2
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MT-ND4
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MT-ND4L
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MT-ND5
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MT-ND6
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| 1. |
Arizmendi JM et al. (1992) Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Completion of the primary structure of the complex? 
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| 2. |
Brown MD et al. (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.
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| 3. |
Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.
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| 4. |
Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.
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| 5. |
Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.
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| 6. |
Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.
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| 7. |
Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.
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| 8. |
Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.
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| 9. |
Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.
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| 10. |
Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.
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| 11. |
Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.
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| 12. |
Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.
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| 13. |
Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.
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| 14. |
Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.
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| 15. |
Walker JE et al. (1992) Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction.
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| 16. |
None (1956) On the origin of cancer cells.
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| 17. |
NCBI article NCBI 4539
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| 18. |
OMIM.ORG article Omim 516004
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| 19. |
Orphanet article Orphanet ID 123557
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