Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales ND1-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

Referenzen:

1.

Opdal SH et al. (1999) Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome.

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2.

Rocha H et al. (1999) About the "Pathological" role of the mtDNA T3308C mutationellipsis.

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3.

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4.

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5.

Wong A et al. (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

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6.

Herrnstadt C et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

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7.

Kim JY et al. (2002) Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.

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8.

Adams KL et al. (2002) Punctuated evolution of mitochondrial gene content: high and variable rates of mitochondrial gene loss and transfer to the nucleus during angiosperm evolution.

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9.

Simon DK et al. (2003) A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia.

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10.

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11.

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12.

Johns DR et al. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

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13.

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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14.

Obayashi T et al. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy.

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15.

Johns DR et al. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation.

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16.

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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17.

Kirby DM et al. (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS.

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18.

Johns DR et al. (1992) Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.

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19.

Valentino ML et al. (2004) The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

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20.

Munakata K et al. (2004) Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder.

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21.

Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

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22.

Blakely EL et al. (2006) Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.

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23.

Hinttala R et al. (2006) Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

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24.

Huoponen K et al. (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

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25.

Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

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26.

Howell N et al. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.

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27.

Spruijt L et al. (2007) A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

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28.

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29.

Lévêque M et al. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

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30.

Johns DR et al. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

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31.

Howell N et al. (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

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32.

Majander A et al. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

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33.

Howell N et al. (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

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34.

Bet L et al. (1990) A case of mitochondrial myopathy, lactic acidosis and complex I deficiency.

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35.

Gutiérrez Cortés N et al. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

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36.

Loveland B et al. (1990) Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein.

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37.

Ohnishi T et al. (1985) EPR studies of iron-sulfur clusters in isolated subunits and subfractions of NADH-ubiquinone oxidoreductase.

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38.

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39.

Galante YM et al. (1979) Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase.

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40.

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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41.

Chomyn A et al. (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.

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42.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

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43.

Onishi T et al. (1974) Low temperature electron paramagnetic resonance studies on iron-sulfur centers in cardiac NADH dehydrogenase.

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44.

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45.

Chomyn A et al. (1983) Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA.

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46.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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47.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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48.

Ragan CI et al. (1982) Resolution of mitochondrial NADH dehydrogenase and isolation of two iron-sulfur proteins.

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49.

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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50.

Earley FG et al. (1984) Photoaffinity labelling of mitochondrial NADH dehydrogenase with arylazidoamorphigenin, an analogue of rotenone.

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51.

Ragan CI et al. (1982) Purification of three iron-sulfur proteins from the iron-protein fragment of mitochondrial NADH-ubiquinone oxidoreductase.

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52.

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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53.

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54.

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55.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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56.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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57.

Chen S et al. (1981) Studies on the interaction of arylazido-beta-alanyl NAD+ with the mitochondrial NADH dehydrogenase.

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58.

Shoffner JM et al. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

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59.

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60.

Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

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