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 in mitochondrial DNA (mtDNA) are frequently heteroplasmic, a state of co-existence with the wild-typ

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

7 s pattern in six additional patients who had heteroplasmic A3243G without strokelike episodes.

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

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

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

11 sting tissue-specific oDNA measurements from heteroplasmic Arabidopsis plant lines through developmen

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

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

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

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

16 availability, we address this question using heteroplasmic Caenorhabditis elegans.

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

18 tested as tools to eliminate mutant mtDNA in heteroplasmic cells and tissues.

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

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

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

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

23 mtDNA, can rescue pathological phenotypes in heteroplasmic cells.

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

25 Six heteroplasmic clones showed a progressive increase in th

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

27 iation will be identical for homoplasmic and heteroplasmic conditions.

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

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

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

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

32 In heteroplasmic cybrid tumors, single-cell analyses reveal

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

34 nd loss of respiratory chain subunits from a heteroplasmic dosage of ~10%.

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

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

37 We used a heteroplasmic Drosophila model to test 1) whether purify

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

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

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

41 Heteroplasmic flies are fully viable and were used to ex

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

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

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

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

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

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

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

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

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

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

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

53 Variant heteroplasmic fraction (HF) in blood correlated well wit

54 ividual patient-derived MSCs, can reach high heteroplasmic fractions and have the potential to be pat

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

56 Given that heteroplasmic frequency represents a key determinant of

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

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

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

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

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

62 milies where several individuals harbored a 'heteroplasmic haplotype' consistent with biparental tran

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

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

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

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

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

68 arply after the age of 70 years, whereas (2) heteroplasmic indels are maternally inherited as mixture

69 Subsequently, we find heteroplasmic individuals are common in Californian fiel

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

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

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

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

74 each mitotype across multiple generations of heteroplasmic laboratory colonies to assess the stabilit

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

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

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

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

79 Heteroplasmic levels of pathogenic mitochondrial DNA mut

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

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

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

83 Following treatment, heteroplasmic m.10191T>C cells had persistent improvemen

84 Heteroplasmic m.3243A>G (MAF = 0.0002, a known pathogeni

85 resulting in mostly homoplasmic females and heteroplasmic males.

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

87 with accelerated evolutionary rates remained heteroplasmic, meaning that they could not functionally

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

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

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

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

92 We studied heteroplasmic mice transmitting m.5024C>T corresponding

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

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

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

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

97 improved well-being in a Drosophila model of heteroplasmic mitochondrial disease.

98 mes is thought to promote the progression of heteroplasmic mitochondrial diseases and degenerative ch

99 Heteroplasmic mitochondrial DNA (mtDNA) defects are an i

100 Heteroplasmic mitochondrial DNA (mtDNA) mutations are a

101 Heteroplasmic mitochondrial DNA (mtDNA) mutations are a

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

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

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

105 Heteroplasmic mitochondrial DNA (mtDNA) variants accumul

106 The m.3243A>G variant is the most common heteroplasmic mitochondrial DNA mutation and underlies a

107 Diseases caused by heteroplasmic mitochondrial DNA mutations have no effect

108 Here, we profiled macrophages harbouring a heteroplasmic mitochondrial tRNA(Ala) mutation (m.5019A>

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

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

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

112 Heteroplasmic mtDNA defects are an important cause of hu

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

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

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

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

117 t fails to fixate, causing multigenerational heteroplasmic mtDNA disorders.

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

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

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

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

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

123 When this heteroplasmic mtDNA is present during embryogenesis, it

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

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

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

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

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

129 Heteroplasmic mtDNA mutations may therefore reflect the

130 based systems biology analyses link specific heteroplasmic mtDNA mutations to metabolic reprogramming

131 Finally, somatic heteroplasmic mtDNA mutations were observed in RRP tissu

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

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

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

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

136 Heteroplasmic mtDNA point mutations were quantified by d

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

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

139 During reprogramming, heteroplasmic mtDNA showed bimodal segregation toward ho

140 We observe that nearly everyone harbours heteroplasmic mtDNA variants obeying two principles: (1)

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

142 Pyrosequencing was performed on heteroplasmic mtDNA.

143 We further demonstrate that the low heteroplasmic mutant cells exhibit a coordinate inductio

144 ondrial DNA (mtDNA) 3243A > G tRNALeu((UUR)) heteroplasmic mutation (m.3243A > G) exhibits clinically

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

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

147 halomyopathy disorder that can result from a heteroplasmic mutation in the mitochondrial DNA (mtDNA;

148 3, 95% confidence interval = .03 to .42) and heteroplasmic mutations (B = .18, 95% confidence interva

149 3, 95% confidence interval = .03 to .42) and heteroplasmic mutations (beta = .18, 95% confidence inte

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

151 Mitochondrial myopathies are often caused by heteroplasmic mutations in the mitochondrial DNA (mtDNA)

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

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

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

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

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

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

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

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

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

161 The heteroplasmic nature of mtDNA-where mutant and wild-type

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

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

164 Here, we compared mtDNA sequence variants, heteroplasmic or homplasmic, between LCL (sequenced by m

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

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

167 Furthermore, the introduction of a heteroplasmic pathogenic mtDNA mutation (m.C5024T of the

168 reducing the transmission of homoplasmic and heteroplasmic pathogenic mtDNA variants.

169 ple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA variants.

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

171 nally inherited but transmission patterns of heteroplasmic pathogenic variants are complex.

172 energetic, metabolomic and RNAseq studies on heteroplasmic patient-derived cells carrying the most pr

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

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

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

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

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

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

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

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

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

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

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

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

185 c mtDNA variants obeying two principles: (1) heteroplasmic single nucleotide variants tend to arise s

186 itochondrial DNA, where each of the observed heteroplasmic sites are found within fully functional co

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

188 LCL and blood samples while more than 70% of heteroplasmic sites were uniquely present either in LCL

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

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

191 l role in certain cancers, and mitochondrial heteroplasmic SNVs may serve as a prognostic marker for

192 We found that heteroplasmic sorting (the fixation or loss of a variant

193 Heteroplasmic sorting also favored GC base pairs.

194 MSH1 function further increased the rate of heteroplasmic sorting in mitochondria (N ~ 1.3), potenti

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

196 Here, we report a seemingly stable heteroplasmic state in California populations of the pol

197 The heteroplasmic state of eukaryotic cells allows for crypt

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

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

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

201 Fewer repeats among heteroplasmic than homoplasmic individuals in a species

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

203 athogenic mitochondrial DNA mutations (often heteroplasmic), the selective removal or modification of

204 Because most pathogenic mtDNA mutations are heteroplasmic, the development of specific nucleases has

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

206 Heteroplasmic transformants were obtained in most cases,

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

208 lection, leading to decreased interoffspring heteroplasmic variance and increased mutational burden w

209 at tightening the mtDNA bottleneck increases heteroplasmic variance between individuals, causing lowe

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

211 We identified 12 homoplasmic and one heteroplasmic variant (m.3243A>G) with genome-wide signi

212 uch diseases depends on the frequency of the heteroplasmic variant in tissues, which, in turn, depend

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

214 Our data show that somatic heteroplasmic variants are present in individual patient

215 All heteroplasmic variants are transcribed, and functional a

216 We show that heteroplasmic variants at intermediate frequencies can s

217 The variant allele fraction (VAF) of heteroplasmic variants in mitochondrial RNA from 257 CHD

218 The identification of somatic heteroplasmic variants in MSCs of patients highlights th

219 uals over 90 years old carried low levels of heteroplasmic variants in their genomes.

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

221 is of the dominant conformations and dynamic heteroplasmic variants of organellar genomes in the mode

222 le while the LCL carried a greater number of heteroplasmic variants than whole blood per sample (p <

223 Heteroplasmic variants that impair mitochondrial capacit

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

225 Furthermore, heteroplasmic variants with higher predicted deleterious

226 itochondrial DNA variants and in particular, heteroplasmic variants, are critical for determining hum

227 al challenges: (1) detecting homoplasmic and heteroplasmic variants, present, respectively, in all or

228 eliable identification and quantification of heteroplasmic variants.

229 Heteroplasmic variation is dynamic, increases with advan

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

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

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

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

234 ssociation between ATFS-1 and DeltamtDNAs in heteroplasmic worms.

235 is also required to maintain DeltamtDNAs in heteroplasmic worms.