Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales TRNK-Gen

Mutationen im mitochondralen TRNK-Gen führen zu mütterlich vererbtem Diabetes mit Schwerhörigkeit.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Mitochondrialer Diabetes mellitus
TRNE
TRNK
TRNL1
TRNS2
MELAS-Syndrom
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2

Referenzen:

1.

Enriquez JA et al. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.

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2.

Chomyn A et al. (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.

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3.

Zeviani M et al. (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

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4.

Shih KD et al. (1991) Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease.

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5.

Noer AS et al. (1991) A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

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6.

Tanno Y et al. (1991) Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients.

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7.

Biancheri R et al. (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

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8.

Shoffner JM et al. (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

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9.

Yoneda M et al. (1990) A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.

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10.

Rahman S et al. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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11.

Suomalainen A et al. (1993) Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.

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12.

Silvestri G et al. (1993) Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

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13.

Chomyn A et al. (1994) Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.

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14.

Fang W et al. (1994) Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.

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15.

Hammans SR et al. (1993) The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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16.

Santorelli FM et al. (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

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17.

Verma A et al. (1997) A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy.

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18.

None (1998) The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.

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19.

Horvath R et al. (2007) Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

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20.

Kameoka K et al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.

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21.

Börner GV et al. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

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22.

Nakamura M et al. (2010) MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.

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23.

Zeviani M et al. (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

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24.

Tiranti V et al. (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

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25.

Penisson-Besnier I et al. (1992) Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.

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26.

Boulet L et al. (1992) Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

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27.

Silvestri G et al. (1992) A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

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28.

Shoffner JM et al. (1992) Mitochondrial genetics: principles and practice.

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29.

Rossmanith W et al. (2003) The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

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30.

Lertrit P et al. (1992) Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.

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31.

Kraytsberg Y et al. (2004) Recombination of human mitochondrial DNA.

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32.

Zsurka G et al. (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.

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33.

Seibel P et al. (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).

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34.

Berkovic SF et al. (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

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35.

Mahata B et al. (2006) Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells.

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36.

Zsurka G et al. (2007) Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.

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37.

NCBI article

NCBI 4566 external link
38.

OMIM.ORG article

Omim 590060 external link
39.

Orphanet article

Orphanet ID 138900 external link
Update: 14. August 2020
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