ライフサイエンスコーパス: heteroplasmic

1 gative selection and were almost exclusively heteroplasmic.

2 lex I gene, is not found in controls, and is heteroplasmic.

3 The mutation was heteroplasmic (54%) in muscle DNA.

4 The majority of mtDNA defects are heteroplasmic (a mixture of mutated and wild-type mtDNA

5 e seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene

6 blasts with 0% mutant mtDNA developed from a heteroplasmic A3460G LHON subject, confirming the associ

7 ysis indicated that the G15242A mutation was heteroplasmic and was present in a high percentage (87%)

8 maternal lineages, most family members were heteroplasmic, and the proportions of each genotype vari

9 Mitochondria from a patient heteroplasmic at nucleo-tide position 8993 of mitochondr

10 Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were

11 c at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition kn

12 and propagation of a deleterious mtDNA in a heteroplasmic Caenorhabditis elegans strain that stably

13 Furthermore, in a cloned heteroplasmic cell line, the proportion of wild-type mtD

14 the segregation of mitochondrial genomes in heteroplasmic cells bearing a mixture of wild-type and m

15 When expressed in heteroplasmic cells containing a mixture of mutated and

16 ch, we generated an isogenic distribution of heteroplasmic cells with variable mtDNA mutant level fro

17 However, in heteroplasmic cells, the functional mRNA level decreased

18 mtDNA, can rescue pathological phenotypes in heteroplasmic cells.

19 re spa19 and spa23, which maintained unusual heteroplasmic chloroplast genomes.

20 Six heteroplasmic clones showed a progressive increase in th

21 Three other tumors contained heteroplasmic COI mutations, one of which created a stop

22 iation will be identical for homoplasmic and heteroplasmic conditions.

23 t contained initially 100% dup-mtDNAs became heteroplasmic, containing both wild-type and rearranged

24 s from a patient with a previously described heteroplasmic COX II (T7587C) mutation indicate that mut

25 ts 80 years and older had a 130% increase in heteroplasmic CR mutations.

26 ochondria with deleterious COXI mutations in heteroplasmic cybrid cells, thereby enriching cells for

27 e initially investigated three patients with heteroplasmic disease associated mutations of mtDNA for

28 co-resident mitochondrial genomes in various heteroplasmic Drosophila lines.

29 densitometry of Southern blots of individual heteroplasmic Drosophila melanogaster to study the effec

30 uals (n = 121, 19 populations); 53 fish were heteroplasmic due to variation in the copy number of a t

31 els of heteroplasmy seen in the offspring of heteroplasmic female mice.

32 e disrupted by hybridization, giving rise to heteroplasmic females and homoplasmic males.

33 Heteroplasmic flies are fully viable and were used to ex

34 the frequency of the mt:CoI(T300I) allele in heteroplasmic flies was decreased, both during oogenesis

35 zyme to induce tissue-specific homoplasmy in heteroplasmic flies, we found that mt:CoI(T300I) homopla

36 ucine plasmid (pAPEleu), and two clones were heteroplasmic for a 0.76-kb deletion in the Buchnera try

37 We constructed yeast strains that were heteroplasmic for mitochondrial mutations that destroy t

38 Crosses between mothers known to be heteroplasmic for one of the markers and homoplasmic fat

39 ng pseudorevertant of the cox2-20 mutant was heteroplasmic for the original mutant mtDNA and a p- mtD

40 ing three generations, from a family that is heteroplasmic for the primary Leber hereditary optic neu

41 nomycin resistance and the Pst I markers and heteroplasmic for the unselected streptomycin resistance

42 h is inherited maternally, whereas males are heteroplasmic for this and the paternally inherited M mi

43 In a second family, previously reported as heteroplasmic for this base substitution, the mutation h

44 A mouse cell variant carrying in heteroplasmic form a nonsense mutation in the mitochondr

45 es (i.e., assembly of mitochondrial genomes, heteroplasmic fractions, haplogroup assignment, function

46 equence analysis of mtDNA identified a novel heteroplasmic G-->A point mutation at position 9952 in t

47 drial-encoded COX-subunit genes identified a heteroplasmic G-->A transition at nucleotide position 69

48 A heteroplasmic G-to-A transition at nucleotide pair (np)

49 analysis showed that all patients harbored a heteroplasmic G13513A mutation in the ND5 subunit gene.

50 e simple may be attributed to their distinct heteroplasmic genome, exclusive maternal lineage of inhe

51 tute of Science and Technology has developed heteroplasmic human mtDNA Standard Reference Material (S

52 In most cases, such mutations are heteroplasmic (i.e. mutated and wild-type mtDNA coexist)

53 This mutation was heteroplasmic in both families, and sequencing of the mi

54 e entities and typically are not found to be heteroplasmic in nature, leading to the widespread assum

55 onserved amino acids in the polypeptide, was heteroplasmic in the patient's muscle but was not detect

56 mbination among mitochondrial genomes within heteroplasmic individuals has led to speculation about t

57 hondrial loci, atp6 and rps12, identified 15 heteroplasmic individuals.

58 dary to the m.3243A > G mutation to generate heteroplasmic induced pluripotent stem cell (hiPSC) clon

59 This revealed that every heteroplasmic L-cell line harbored a mtDNA that had been

60 Further, heteroplasmic large-deletion mitochondrial DNA is very c

61 Similarly, heteroplasmic length variation was demonstrated in 2/6 o

62 th the 3243 G:C mutation was associated with heteroplasmic length variation.

63 ere we describe a transgene-based model of a heteroplasmic lethal mtDNA deletion (mtDNA(Delta)) in ad

64 Heteroplasmic levels of pathogenic mitochondrial DNA mut

65 nerated cytoplasmic hybrid clones containing heteroplasmic levels of the T8993G mutation, and showed

66 ets of results, and from previous studies of heteroplasmic LHON families, we conclude that there is n

67 s carrying mitochondrial mutations to create heteroplasmic lines transmitting two mitochondrial genot

68 A novel, heteroplasmic, maternally inherited 12SrRNA point mutati

69 t of deleterious mitochondrial mutations are heteroplasmic, meaning that wild type and mutated forms

70 aves multiple sites in each haplotype of the heteroplasmic mice (five in NZB and three in BALB mtDNA)

71 estriction endonuclease to introduce DSBs in heteroplasmic mice and cells in which we were able to ut

72 y, this segregation process produced NZB-129 heteroplasmic mice and their NZB or 129 mtDNA homoplasmi

73 ee mtDNA lines demonstrated that the NZB-129 heteroplasmic mice, but neither homoplasmic counterpart,

74 of of concept, we took advantage of NZB/BALB heteroplasmic mice, which contain two mtDNA haplotypes,

75 restriction endonuclease, ApaLI, in cells of heteroplasmic mice.

76 and genetic studies identified a pathogenic, heteroplasmic mitochondria tRNA(Ile) (4274T>C) mutation.

77 Heteroplasmic mitochondrial DNA (mtDNA) defects are an i

78 With a combined carrier frequency of 1:200, heteroplasmic mitochondrial DNA (mtDNA) mutations cause

79 icycle exercise training in 10 patients with heteroplasmic mitochondrial DNA (mtDNA) mutations.

80 We identified large-scale heteroplasmic mitochondrial DNA (mtDNA) rearrangements i

81 lines lacked wild-type mtDNAs but harbored a heteroplasmic mixture of mtDNAs, each with a different c

82 of F1 offspring derived from 18 independent heteroplasmic mothers as they aged.

83 all AD brains had an average 63% increase in heteroplasmic mtDNA CR mutations and that AD brains from

84 Heteroplasmic mtDNA defects are an important cause of hu

85 Kearns-Sayre syndrome is caused by a single heteroplasmic mtDNA deletion.

86 mtDNA copy number and the presence of large heteroplasmic mtDNA deletions in TMZ-resistant glioma ce

87 n in mtDNA copy number and increase in large heteroplasmic mtDNA deletions.

88 of antigenomic PNA therapy for patients with heteroplasmic mtDNA disorders.

89 e of a ketogenic diet to treat patients with heteroplasmic mtDNA disorders.

90 y as a strategy to drive selection against a heteroplasmic mtDNA G11778A mutation and raise the excit

91 asmic hybrid (cybrid) cell line expressing a heteroplasmic mtDNA G11778A mutation, the most common ca

92 pe mtDNA, through spontaneous segregation of heteroplasmic mtDNA in individual iPS cell lines or mito

93 ant mtDNA through spontaneous segregation of heteroplasmic mtDNA in proliferating fibroblasts.

94 When this heteroplasmic mtDNA is present during embryogenesis, it

95 s might explain a recent report describing a heteroplasmic mtDNA molecule containing five linked miss

96 In this study, we analyzed the heteroplasmic mtDNA mutation C4936T (p.T156I) in ND2 of

97 ial DNA (mtDNA) disease from a mother with a heteroplasmic mtDNA mutation to her children is unpredic

98 Mutation detection kits were used to detect heteroplasmic mtDNA mutation.

99 Two recent publications propose that heteroplasmic mtDNA mutations are involved in AD and PD.

100 t of mitochondrial disorders associated with heteroplasmic mtDNA mutations, although further studies

101 test whether the frequency of mtDNA damage, heteroplasmic mtDNA mutations, and repair capacity corre

102 In patients with heteroplasmic mtDNA mutations, we found an inverse relat

103 Taking advantage of cell lines with heteroplasmic mtDNA mutations, we showed that, after sev

104 lowed by segregation of the resulting highly heteroplasmic mtDNA population by means of intracellular

105 cybrids were used to confirm the presence of heteroplasmic mtDNA sequence variants in the human brain

106 During reprogramming, heteroplasmic mtDNA showed bimodal segregation toward ho

107 t influences the segregation and fixation of heteroplasmic mtDNA, do levels of heteroplasmy fluctuate

108 Pyrosequencing was performed on heteroplasmic mtDNA.

109 Previously, we have shown that a heteroplasmic mutation in mitochondrial DNA-encoded comp

110 One of these novel mutations was a heteroplasmic mutation in the COXIII gene that was found

111 Heteroplasmic mutations as low as 1% of mtDNA could stil

112 lines were derived from patients with common heteroplasmic mutations including 3243A>G, causing mitoc

113 ncer cells harboured further homoplasmic and heteroplasmic mutations that could also be detected in p

114 In addition, more mitochondrial heteroplasmic mutations were detected in eyes with AMD.

115 l investigation is to determine the level of heteroplasmic mutations within tissues and individual ce

116 w macula-specific increases in mtDNA damage, heteroplasmic mutations, and diminished repair that are

117 hod using samples with known homoplasmic and heteroplasmic mutations, as well as CEPH pedigrees to st

118 ually, makes it valuable for the analysis of heteroplasmic mutations.

119 enetic role for this mtDNA polymorphism, its heteroplasmic nature made functional and molecular studi

120 This is mainly the result of the heteroplasmic nature of most pathogenic mtDNA mutations

121 Surprisingly, the cell line carrying the heteroplasmic ND5 mtDNA mutation showed significantly en

122 nded fibroblasts carried an elevated load of heteroplasmic or homoplasmic mutations, suggesting that

123 The rate of attainment of asymptote for heteroplasmic organelles, however, is governed by the ra

124 The mutation 3243A-->G is the most common heteroplasmic pathogenic mitochondrial DNA (mtDNA) mutat

125 nical symptoms in patients harboring certain heteroplasmic pathogenic mutations in mtDNA.

126 fertilized stroma of E. typhina is initially heteroplasmic, permitting parental mitochondria to fuse

127 hain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA g

128 tative technique is shown in the analysis of heteroplasmic point mutations in mitochondrial DNA that

129 at pooled skin and blood mtDNA contained low heteroplasmic point mutations, but a panel of ten indivi

130 They reported that this heteroplasmic population was present at a level of 10-15

131 individuals from 16 species resulted in 107 heteroplasmic positions present in a total of 45 individ

132 Nine fish with L3 or L4 duplications were heteroplasmic, possessing some mtDNAs that lacked duplic

133 This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all

134 When expressed in a heteroplasmic rodent cell line, containing one mtDNA hap

135 all samples, and while the vast majority of heteroplasmic samples comprised two molecules differing

136 s well suited to characterize and quantitate heteroplasmic samples or those containing mixtures.

137 ce that treatment with ketone bodies caused "heteroplasmic shifting" not only among cells (ie, interc

138 pairs exhibited greater similarity in MAF at heteroplasmic sites than DZ twin pairs, suggesting that

139 new variants were identified along with two heteroplasmic sites, automatically detected by the PolyP

140 re observed between plasma and leukocytes at heteroplasmic sites, consistent with mixed-tissue origin

141 r pathogenic mtDNA mutations existing in the heteroplasmic state if heteroduplexes could be generated

142 accumulation of crossovers that increase the heteroplasmic state of the mitochondrial DNA.

143 een revealed through the study of an unusual heteroplasmic strain of the green alga Chlamydomonas rei

144 The heteroplasmic strain, which has 60% mtDNA, displays mode

145 Fewer repeats among heteroplasmic than homoplasmic individuals in a species

146 limit of two repeats and more repeats among heteroplasmic than homoplasmic individuals in two specie

147 hic growth stabilizes transgenic plastids in heteroplasmic transformants following antibiotic withdra

148 Heteroplasmic transformants were obtained in most cases,

149 cyt b cDNAs from this patient contain highly heteroplasmic transition mutations compared with control

150 We show that very low-level heteroplasmic variance is present in all tested healthy

151 Furthermore, at least one heteroplasmic variant is significantly associated with c

152 als over 90 years old carried low levels of heteroplasmic variants in their genomes.

153 In addition, the majority of heteroplasmic variants occurred at low proportions and c

154 Moreover, the frequency of heteroplasmic variants varied considerably between diffe

155 eliable identification and quantification of heteroplasmic variants.

156 Portions of the tissues that appeared to be heteroplasmic were extracted at least one additional tim

157 Pathogenic mtDNA mutations are usually heteroplasmic, with a mixture of mutant and wild-type mt

158 enic mitochondrial DNA (mtDNA) mutations are heteroplasmic, with both mutant and wild-type alleles pr

159 The majority of pathogenic mutations are heteroplasmic, with mutated and wild-type mitochondrial