Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales MTTL1-Gen

Mutationen der mitochondrialen tRNA für Leucin können zum MELAS-Syndrom oder zum mitochondrialen Diabetes mit Schwerhörigkeit führen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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

Referenzen:

1.

van den Ouweland JM et. al. (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

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2.

Reardon W et. al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.

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3.

Schulz JB et. al. (1993) Mitochondrial gene mutations and diabetes mellitus.

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4.

Velho G et. al. (1996) Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.

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5.

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

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6.

Lertrit P et al. (1992) A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

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7.

Elliott HR et al. (2008) Pathogenic mitochondrial DNA mutations are common in the general population.

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8.

Yoneda M et al. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

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9.

Lam CW et al. (1997) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.

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10.

Moraes CT et al. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

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11.

Sue CM et al. (1999) Infantile encephalopathy associated with the MELAS A3243G mutation.

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12.

Smith PR et al. (1999) Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

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13.

Deschauer M et al. (1999) Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.

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14.

Bruno C et al. (1999) The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

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15.

Latkany P et al. (1999) Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.

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16.

Janssen GM et al. (1999) The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate.

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17.

Yasukawa T et al. (2000) Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

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18.

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

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19.

Chomyn A et al. (2000) The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

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20.

Rahman S et al. (2001) Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

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21.

Aggarwal P et al. (2001) Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta.

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22.

Moilanen JS et al. (2001) Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.

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23.

De Kremer RD et al. (2001) Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).

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24.

Chinnery PF et al. (2001) No correlation between muscle A3243G mutation load and mitochondrial function in vivo.

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25.

Uimonen S et al. (2001) Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.

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26.

Seneca S et al. (2001) A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

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27.

Nagata H et al. (2001) Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics.

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28.

Deschauer M et al. (2001) Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation.

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29.

Jaksch M et al. (2001) A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

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30.

Olsson C et al. (2001) The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.

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31.

Torroni A et al. (2003) Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

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32.

Salpietro CD et al. (2003) A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting.

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33.

Moraes CT et al. (1992) The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

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34.

Gattermann N et al. (2004) Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome.

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35.

Petruzzella V et al. (2004) Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.

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36.

Goto Y et al. (1992) A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.

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37.

Kirino Y et al. (2004) Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease.

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38.

Jones M et al. (2004) MELAS A3243G mitochondrial DNA mutation and age related maculopathy.

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39.

Ciafaloni E et al. (1992) MELAS: clinical features, biochemistry, and molecular genetics.

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40.

Stenqvist L et al. (2005) A juvenile case of MELAS with T3271C mitochondrial DNA mutation.

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41.

Böhm M et al. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

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42.

Zeviani M et al. (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).

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43.

Enter C et al. (1991) A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

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44.

Pyle A et al. (2007) Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

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45.

Donovan LE et al. (2006) Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues.

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46.

Kobayashi Y et al. (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

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47.

Jeppesen TD et al. (2006) Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

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48.

Durham SE et al. (2007) Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

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49.

Janssen GM et al. (2007) The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.

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50.

Uusimaa J et al. (2007) Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

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51.

Rajasimha HK et al. (2008) Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

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52.

Janssen AJ et al. (2008) Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

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53.

Sasarman F et al. (2008) The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

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54.

Kaufmann P et al. (2009) Protean phenotypic features of the A3243G mitochondrial DNA mutation.

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55.

Goto Y et al. (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

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56.

Costello DJ et al. (2009) Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.

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57.

Li R et al. (2010) Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.

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58.

Yakubovskaya E et al. (2010) Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription.

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59.

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

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60.

Parsons T et al. (2010) Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

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61.

Goto Y et al. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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62.

Kobayashi Y et al. (1990) A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

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63.

Manouvrier S et al. (1995) Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

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64.

Yang CY et al. (1995) MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan.

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65.

Matthews PM et al. (1995) Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

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66.

Odawara M et al. (1995) Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene.

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67.

Silvestri G et al. (1994) A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

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68.

de Vries D et al. (1994) Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.

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69.

Morten KJ et al. (1993) A new point mutation associated with mitochondrial encephalomyopathy.

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70.

Mariotti C et al. (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

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71.

Matthews PM et al. (1994) Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

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72.

Sweeney MG et al. (1993) Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.

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73.

Hayashi J et al. (1993) Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.

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74.

Mosewich RK et al. (1993) The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

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75.

Morten KJ et al. (1995) Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.

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76.

Damian MS et al. (1996) VACTERL with the mitochondrial np 3243 point mutation.

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77.

Feigenbaum A et al. (1996) The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

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78.

Houshmand M et al. (1996) Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

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79.

Yorifuji T et al. (1996) Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.

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80.

Chuang LM et al. (1995) Mitochondrial gene mutations in familial non-insulin-dependent diabetes mellitus in Taiwan.

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81.

Ogle RF et al. (1997) Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

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82.

Tamagawa Y et al. (1997) Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA.

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83.

Vilarinho L et al. (1997) The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

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84.

Stone DL et al. (1997) Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association.

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85.

Zeviani M et al. (1998) Mitochondrial disorders.

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86.

Hirai M et al. (1998) Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus.

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87.

Wilichowski E et al. (1998) Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

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88.

Majamaa K et al. (1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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89.

Chinnery PF et al. (1998) MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

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90.

et al. (1998) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 39-1998. A 13-year-old girl with a relapsing-remitting neurologic disorder.

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