ライフサイエンスコーパス: mitochondrial disease

1 is the most common pediatric presentation of mitochondrial disease.

2 complex pathological changes taking place in mitochondrial disease.

3 RNA processing have been identified to cause mitochondrial disease.

4 efect in the respiratory chain in paediatric mitochondrial disease.

5 respiratory chain deficiency associated with mitochondrial disease.

6 otyping of the movement disorders related to mitochondrial disease.

7 , the most common pediatric manifestation of mitochondrial disease.

8 ophosphatase (PPA2) that are associated with mitochondrial disease.

9 ement disorder among pediatric patients with mitochondrial disease.

10 d analysis of whole-exome sequencing data in mitochondrial disease.

11 mical phenotype observed in individuals with mitochondrial disease.

12 y optic neuropathy (LHON) is the most common mitochondrial disease.

13 P carrier AAC1 are well-recognized causes of mitochondrial disease.

14 mechanisms of neurodegeneration occurring in mitochondrial disease.

15 tissue failure, an important aspect of human mitochondrial disease.

16 from the first FDA-approved drug therapy for mitochondrial disease.

17 s advised for the diagnosis of patients with mitochondrial disease.

18 Epilepsy is a common manifestation of mitochondrial disease.

19 to contribute to the increased mortality in mitochondrial disease.

20 different mitochondrial inhibitors to model mitochondrial disease.

21 ogression of epilepsy in adult patients with mitochondrial disease.

22 novel ways to prevent transmission of severe mitochondrial disease.

23 e potential role of amino acids in improving mitochondrial disease.

24 s establish that COX10 mutations cause adult mitochondrial disease.

25 ssembly factor whose mutations lead to human mitochondrial disease.

26 uent respiratory chain defects seen in human mitochondrial disease.

27 should be considered, at least in part, as a mitochondrial disease.

28 athological hallmark of aging and late-onset mitochondrial disease.

29 complex puzzle of the genetic basis of human mitochondrial disease.

30 moxia may constitute a cellular hyperoxia in mitochondrial disease.

31 gulating nuclear transcription and a link to mitochondrial disease.

32 multisystem disorders known collectively as mitochondrial disease.

33 n patient care relative to manifestations of mitochondrial disease.

34 vent mtDNA loss in a human cellular model of mitochondrial disease.

35 ondrial genetics and mutations causing human mitochondrial disease.

36 e latter influences our xenocybrid models of mitochondrial disease.

37 of mutant pre-tRNAs, perhaps contributing to mitochondrial disease.

38 eveloping therapeutic interventions to treat mitochondrial disease.

39 is PCET machinery may lead to development of mitochondrial disease.

40 clinical outlook for treatment of hereditary mitochondrial disease.

41 different mitochondrial inhibitors to model mitochondrial disease.

42 ranscriptional and phenotypic variability of mitochondrial disease.

43 s the most prominent ocular manifestation of mitochondrial disease.

44 de a mechanism for unexplained phenotypes of mitochondrial disease.

45 is common and often severe in patients with mitochondrial disease.

46 iagnostic work-up of patients with suspected mitochondrial disease.

47 ings in the context of movement disorders in mitochondrial disease.

48 s chromosomal, monogenic, multifactorial and mitochondrial diseases.

49 egy for therapeutic intervention in selected mitochondrial diseases.

50 lying pathogenesis of inherited and acquired mitochondrial diseases.

51 herapeutic implications for the treatment of mitochondrial diseases.

52 stem cells, even in patients with hereditary mitochondrial diseases.

53 ly highly diverse and a major cause of human mitochondrial diseases.

54 enefits of CoQ10 supplementation observed in mitochondrial diseases.

55 the mechanisms of stress pathophysiology and mitochondrial diseases.

56 n of the mitochondrial genome as observed in mitochondrial diseases.

57 tic and asymptomatic mtDNA mutations causing mitochondrial diseases.

58 ught to underlie pathologies associated with mitochondrial diseases.

59 s, it holds broad value for the treatment of mitochondrial diseases.

60 defects in this process lead to a variety of mitochondrial diseases.

61 in Dictyostelium and human cytopathology in mitochondrial diseases.

62 ndrial nucleases can be therapeutic for some mitochondrial diseases.

63 tegy may prove relevant for a broad range of mitochondrial diseases.

64 ical heterogeneity observed in patients with mitochondrial diseases.

65 be of enormous potential benefit in treating mitochondrial diseases.

66 f Parkin expression might ameliorate certain mitochondrial diseases.

67 synthesis represent one of the few treatable mitochondrial diseases.

68 is is a promising venue for the treatment of mitochondrial diseases.

69 d its dysfunction is found in numerous human mitochondrial diseases.

70 o efficient method to treat their associated mitochondrial diseases.

71 phenotypic expression of mtDNA mutations in mitochondrial diseases.

72 have been found to be associated with known mitochondrial diseases.

73 to elucidate mechanisms of and therapies for mitochondrial diseases.

74 GDF-15 is a biomarker for mitochondrial diseases.

75 stently altered pathways, similar to primary mitochondrial diseases.

76 itochondrial energy generation disorders, or mitochondrial diseases.

77 and acquired toxic/metabolic causes; and (4) mitochondrial diseases.

78 ion can cause short stature in children with mitochondrial diseases.

79 ion of mutant mtDNA molecules is crucial for mitochondrial diseases.

80 otypes in an individual-can lead to numerous mitochondrial diseases.

81 n POLG impede maintenance of mtDNA and cause mitochondrial diseases.

82 f mtDNA-driven, and some nuclear DNA-driven, mitochondrial diseases.

83 (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mitochondrial disease (10%).

84 an [SD] age, 37 [25] years; 38% female) with mitochondrial disease (12 pediatric [age range, 4-14 yea

85 cose tolerance(2), insulin resistance(3) and mitochondrial disease(4), and are associated with a comm

86 The Newcastle Mitochondrial Disease Adult Scale (NMDAS) score was meas

87 disease burden, as measured by the Newcastle Mitochondrial Disease Adult Scale, are significantly (P

88 er's hereditary optic neuropathy (LHON) is a mitochondrial disease affecting retinal ganglion cells (

89 uropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and chara

90 NA) rearrangements are an important cause of mitochondrial disease and age related mitochondrial dysf

91 the copy number and organization of mtDNA in mitochondrial disease and aging, and in molecular biolog

92 -to-cell heterogeneity in cellular models of mitochondrial disease and aging.

93 cell (a.k.a., heteroplasmy) is important in mitochondrial disease and aging.

94 DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are likely to have a central r

95 he use of this approach to diagnose systemic mitochondrial disease and avoid issues associated with o

96 s of mitochondrial DNA are a common cause of mitochondrial disease and cause a broad phenotypic spect

97 f altered MICOS assembly linked with a human mitochondrial disease and confirm a central role for QIL

98 and pantothenate expand dramatically in both mitochondrial disease and control subjects.

99 ntally related to the pathophysiology of the mitochondrial disease and correlate with clinical progre

100 plain the pathogenesis of POLG2 mutations in mitochondrial disease and emphasizes the need to quantit

101 or two disorders, including IGF2/INS-IGF2 in mitochondrial disease and FBN3 in Klippel-Trenaunay-Webe

102 utant enzymes is important for understanding mitochondrial disease and for predicting disease severit

103 gamma (POLG) mutations are a common cause of mitochondrial disease and have also been linked to neuro

104 in human mitochondrial DNA (mtDNA) can cause mitochondrial disease and have been associated with neur

105 is low could have therapeutic advantages for mitochondrial disease and healthy aging.

106 entifying mutations in TRMT10C as a cause of mitochondrial disease and highlighting the importance of

107 utants will be useful both in modeling human mitochondrial disease and in understanding the mechanism

108 a from 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmo

109 ntinues to support the accurate diagnosis of mitochondrial disease and remains important in delineati

110 it will also discuss potential biomarkers of mitochondrial disease and suggest potential novel therap

111 oss was only observed in a few patients with mitochondrial disease and that all these patients had mu

112 ry optic neuropathy (LHON) is a rare genetic mitochondrial disease and the primary cause of chronic v

113 of mterf proteins and suggest a link between mitochondrial disease and the regulation of mitochondria

114 cular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish

115 To help improve the diagnosis of mitochondrial disease and to study the mechanisms underl

116 ult) with genetic or biochemical evidence of mitochondrial disease and with 1 or more predefined extr

117 Mitochondrial diseases and aging are associated with def

118 imeric mtDNA replicase implicated in certain mitochondrial diseases and aging models.

119 Mutations of mtDNA can cause mitochondrial diseases and are implicated in aging.

120 They are linked with hereditary mitochondrial diseases and are often the unintended targ

121 r transition into clinical use in congenital mitochondrial diseases and chronic disorders such as typ

122 ous ophthalmologic manifestations of primary mitochondrial diseases and discusses the implications of

123 me over another to affect the inheritance of mitochondrial diseases and guide the evolution of mitoch

124 athogenesis of SCS A-beta deficiency-related mitochondrial diseases and revealed the vital role of SC

125 al DNA (mtDNA) deletions are associated with mitochondrial disease, and also accumulate during normal

126 ontribute to the phenotypic heterogeneity of mitochondrial disease, and may explain why some patients

127 c link between FGF21, a long-known marker of mitochondrial disease, and systemic metabolic adaptation

128 iagnostic tools and treatment strategies for mitochondrial diseases, and summarizes current understan

129 ral nervous system is affected, such as many mitochondrial diseases, and that AAV-Slc25a46 could be a

130 etics, as treatment of defective dynamics in mitochondrial diseases appears to be possible by improvi

131 pyramidal movement disorders associated with mitochondrial disease are difficult to treat and can lea

132 Mitochondrial diseases are a heterogeneous group of inhe

133 Mitochondrial diseases are among the most common and mos

134 Mitochondrial diseases are among the most frequently inh

135 Mitochondrial diseases are an excellent target for hypot

136 Many mitochondrial diseases are caused by mutations in mitoch

137 Mitochondrial diseases are clinically heterogeneous diso

138 Mitochondrial diseases are commonly caused by mutated mi

139 Treatments for mitochondrial diseases are currently focused on symptoma

140 Mitochondrial diseases are diverse, and animal models cu

141 Mitochondrial diseases are frequently associated with mu

142 Because mitochondrial diseases are incurable, attention has focu

143 Mitochondrial diseases are individually uncommon, but co

144 Common causes of human mitochondrial diseases are mutations affecting DNA polym

145 Mitochondrial diseases are notoriously difficult to diag

146 Mitochondrial diseases are systemic, prevalent and often

147 luding the residue mutated in a patient with mitochondrial disease, are essential for COA6 function,

148 we have developed a new paradigm in clinical mitochondrial disease assessment and management that sid

149 ate when screening for genes responsible for mitochondrial diseases associated with COX deficiency.

150 consistent with the delayed presentation of mitochondrial diseases associated with mutation of C10or

151 her underscoring the existence of a group of mitochondrial diseases associated with neurocutaneous ma

152 Thus far, predicting the severity of mitochondrial disease based the magnitude of deficiency

153 xnCx(1)(0)C motif of COA6, implicating it in mitochondrial disease biology.

154 dvances in the development of treatments for mitochondrial disease, both small molecules and gene the

155 highlights some important recent advances in mitochondrial disease but also stresses the areas where

156 he generation of model systems to study rare mitochondrial diseases but was long deemed impossible -

157 y toward preventing germline transmission of mitochondrial diseases by inducing mtDNA heteroplasmy sh

158 general strategy to treat certain classes of mitochondrial diseases by modification of the correspond

159 This review updates the topic of mitochondrial diseases by reviewing the most important r

160 this gene and demonstrates that early-onset mitochondrial disease can be caused by recurrent de novo

161 Inherited mitochondrial diseases can be caused by mutations of mit

162 Mitochondrial diseases cause a range of clinical manifes

163 his process is highlighted in a patient with mitochondrial disease caused by biallelic pathogenic var

164 itary optic neuropathy (LHON) is a classical mitochondrial disease caused by mutations in the mitocho

165 thalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and

166 lucidate the molecular pathogenesis of human mitochondrial diseases caused by aberrant tRNA modificat

167 the transgenerational transmission of human mitochondrial diseases caused by mutations in mtDNA.

168 However, children with mitochondrial diseases causing RC dysfunction often pres

169 phalomyelopathy similar to Leigh syndrome, a mitochondrial disease characterized by disrupted energy

170 f mortality in Friedreich's ataxia (FRDA), a mitochondrial disease characterized by neurodegeneration

171 Leigh syndrome is a mitochondrial disease characterized by neurological diso

172 rapeutic interventions in the large group of mitochondrial diseases characterized by the CI instabili

173 Remarkably, as has been shown for other mitochondrial diseases, chronic hypoxia offers substanti

174 e a framework for understanding cases of the mitochondrial disease citrin deficiency.

175 nquete Perinatale Francaise criteria and the Mitochondrial Disease Classification criteria, were used

176 utive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne betw

177 Six adults in a well-defined mitochondrial disease cohort and 11 additional cases des

178 unction CRISPR activation screen using human mitochondrial disease complex I (CI) mutant cells to ide

179 Mitochondrial diseases comprise a heterogeneous group of

180 g the value of nutritional interventions for mitochondrial disease conditions.

181 ay explain why some patients with underlying mitochondrial disease decompensate after seemingly trivi

182 Our understanding of mitochondrial diseases (defined restrictively as defects

183 tochondrial genetics, recent developments in mitochondrial disease diagnostic testing, and emerging i

184 uclear genes for mtDNA maintenance linked to mitochondrial disease, eight heterozygous mutations (six

185 Mitochondrial diseases (encephalomyopathies) have tradit

186 At rest, patients with mitochondrial disease exhibit elevated lactate and reduc

187 Approximately one-quarter of patients with mitochondrial disease experience epilepsy.

188 gregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singleto

189 ical, and molecular findings in six cases of mitochondrial disease from four unrelated families affec

190 and potential novel mutations in 4 possible mitochondrial disease genes (VARS2, GARS, FLAD1, and PTC

191 hondrial research and prioritising candidate mitochondrial disease genes.

192 responsible for infantile or childhood-onset mitochondrial disease, hallmarked by the combination of

193 biological processes such as speciation and mitochondrial disease has been questioned.

194 The phenotypic spectrum of mitochondrial disease has expanded significantly since t

195 The prevalence of mitochondrial disease has proven difficult to establish,

196 eber's hereditary optic neuropathy (LHON), a mitochondrial disease, has clinical manifestations that

197 las, no clinical trial data for treatment in mitochondrial disease have been published in the last 12

198 erstanding of the molecular genetic basis of mitochondrial disease have not only improved genetic dia

199 ficiency are both characteristic findings in mitochondrial disease, hence the rigorous assessment of

200 were responsible for clinically overt adult mitochondrial disease in 2.9 per 100,000 adults.

201 and which was previously shown to ameliorate mitochondrial disease in a knock-out mouse model lacking

202 ene RRM2B are an important cause of familial mitochondrial disease in both adults and children and re

203 it is important to consider the diagnosis of mitochondrial disease in newborns with hypotonia and car

204 onducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, a

205 complex I replicated the hallmarks of human mitochondrial disease in the mouse.

206 Adults with suspected mitochondrial disease in the North East of England were

207 mise for discovery of new therapies to treat mitochondrial diseases in humans.

208 hus preventing or ameliorating metabolic and mitochondrial diseases in mouse models.

209 se gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy.

210 Mitochondrial diseases include a group of maternally inh

211 SFXN4 lead to phenotypic characteristics of mitochondrial disease including impaired mitochondrial r

212 ations of this balance are relevant to human mitochondrial diseases including mitochondrial neurogast

213 a confirm that the total prevalence of adult mitochondrial disease, including pathogenic mutations of

214 ainstem lesions resembling pathology seen in mitochondrial disease, including severe neuronal loss in

215 tion are the underlying cause of a number of mitochondrial diseases, including diabetes, deafness, en

216 sequencing as a primary diagnostic test for mitochondrial diseases, including those due to mtDNA mut

217 ound in the skeletal muscle of patients with mitochondrial disease, inflammatory myopathies and sarco

218 from patients with genetically-characterised mitochondrial disease, investigating the distribution of

219 ma (POLG) has been linked to a wide range of mitochondrial diseases involving mutation, deletion, and

220 Mitochondrial disease is a heterogeneous group of energy

221 Primary mitochondrial disease is caused by defects in the mitoch

222 The most common pediatric mitochondrial disease is Leigh syndrome, an episodic, su

223 Mitochondrial disease is maternally inherited and refrac

224 benefits, and the current best management of mitochondrial disease is supportive.

225 Although the genetic background in mitochondrial diseases is in either the nuclear or the m

226 cades about the etiology and pathogenesis of mitochondrial diseases is reflected in the design and de

227 and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest i

228 tive phosphorylation defect in children with mitochondrial disease, leading to a diverse range of cli

229 amyotrophic lateral sclerosis phenotype in a mitochondrial disease led us to analyse CHCHD10 in a coh

230 stores function in a Drosophila model of the mitochondrial disease Leigh syndrome and in a Drosophila

231 l outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO.

232 sclerosis clinical spectrum by showing that mitochondrial disease may be at the origin of some of th

233 unction in children with ASD and concomitant mitochondrial disease (MD) were compared with published

234 e untreatable and fatal pathologies known as mitochondrial disease (MD).

235 effects of forced expression of MNRR1 on the mitochondrial disease MELAS (mitochondrial encephalomyop

236 This mouse mitochondrial disease model provides a robust platform f

237 Recent work has shown that mitochondrial disease models display tissue hyperoxia an

238 Motivated by mitochondrial diseases, much focus has been placed into

239 transport chain (ETC) defects occurring from mitochondrial disease mutations compromise ATP synthesis

240 n pol gamma and examines the consequences of mitochondrial disease mutations in this region.

241 geting the T8993G mutation, which causes two mitochondrial diseases, neurogenic muscle weakness, atax

242 6% had PEO and other features of mitochondrial disease not consistent with another recogn

243 This zebrafish model of mitochondrial disease now provides unique opportunities

244 Mitochondrial diseases often exhibit tissue-specific pat

245 of mitochondrial DNA (mtDNA) often underlie mitochondrial disease, one of the most common inherited

246 ncludes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders,

247 some remarkable advances in our knowledge of mitochondrial diseases over the past few years.

248 from 83 unrelated families, recruited to the Mitochondrial Disease Patient Cohort Study UK.

249 uited to the Medical Research Council Centre Mitochondrial Disease Patient Cohort, Newcastle.

250 tulating the observed pathology in the human mitochondrial disease patient who died of neonatal hyper

251 ausal role of the COA6 mutation in the human mitochondrial disease patient.

252 II-mediated electron flow allows cells from mitochondrial disease patients devoid of a functional co

253 for a large (3,895 bp) deletion observed in mitochondrial disease patients.

254 by complex I missense mutations derived from mitochondrial disease patients.

255 Since MNRR1 depletion contains features of a mitochondrial disease phenotype, we evaluated the effect

256 that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes.

257 eurological phenotypes observed in pediatric mitochondrial disease presentations.

258 Hence, most patients with mitochondrial disease produced by defects in the oxidati

259 This update discusses current biomarkers of mitochondrial disease progression including metabolomics

260 l variant of ribonuclease H1 associated with mitochondrial disease, R-loops are of low abundance, and

261 onding in sequence to G167P) identified as a mitochondrial disease-related mutation in human cytochro

262 conclusion, we identified m.12955A > G as a mitochondrial disease-related mutation.

263 roducts and cellular pathways that result in mitochondrial disease remain elusive.

264 the spectrum of the clinical presentation of mitochondrial diseases, respiratory chain defects and de

265 vention of IFO-induced nephrotoxicity and/or mitochondrial diseases secondary to defective C-I.

266 ts (87% adults) followed up at the Newcastle mitochondrial disease specialized referral center betwee

267 rial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be ro

268 esides Sod2 contribute to the Epas1(-)(/)(-) mitochondrial disease state.

269 tor 2alpha (HIF-2alpha), exhibit an apparent mitochondrial disease state.

270 rial DNA (mtDNA) helicase, co-segregate with mitochondrial diseases such as adult-onset progressive e

271 pol gamma activity have been associated with mitochondrial diseases such as Alpers syndrome and progr

272 cificity and potential treatment options for mitochondrial diseases, such as metabolome remodeling.

273 s the sirtuins, are at the core of metabolic/mitochondrial diseases, such as obesity and diabetes, an

274 ckout libraries in human cells and models of mitochondrial disease suggests chronic hypoxia could be

275 control and eight patients with POLG-related mitochondrial disease that lacked POLG mutations.

276 A popular mouse model of mitochondrial disease that lacks NADH:ubiquinone oxidore

277 ntified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants.

278 acity to diagnose the heterogeneous group of mitochondrial diseases that afflict the pediatric popula

279 Our findings suggest, in this common mitochondrial disease, that IPO is an under-recognized,

280 sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also present

281 pite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive

282 the pathophysiological mechanisms underlying mitochondrial diseases, the cellular mechanisms that pro

283 e diagnostic testing, and emerging ideas for mitochondrial disease therapies.

284 rk for future approaches to devise effective mitochondrial disease therapies.

285 hold promise for the development of targeted mitochondrial disease therapies.

286 rs a promising target for future age-related mitochondrial disease therapies.

287 ion suggests that it could be considered for mitochondrial disease therapy and/or therapy in muscle d

288 s well as methods to prevent transmission of mitochondrial disease through the germline.

289 ssessed the prevalence of all forms of adult mitochondrial disease to include pathogenic mutations in

290 ria of SN neurons from patients with primary mitochondrial diseases to determine whether mitochondria

291 chondrial genetics and focus on prototypical mitochondrial diseases to illustrate how primary defects

292 ne expression data from mice and humans with mitochondrial diseases, we show that the ATF4 pathway is

293 an early-onset, multisystem and neurological mitochondrial disease, which should be considered as a c

294 may represent a novel therapeutic avenue for mitochondrial diseases, which remain largely untreatable

295 (mtDNA) deletions are an important cause of mitochondrial disease, while somatic mtDNA deletions cau

296 ith genetically determined m.3243A>G-related mitochondrial disease, who presented with severe symptom

297 polymerase gamma, are an important cause of mitochondrial disease with approximately 25% of all adul

298 Q4 mutations are responsible for early-onset mitochondrial diseases with heterogeneous clinical prese

299 xpression at different levels, causing human mitochondrial diseases with pleiotropic clinical manifes

300 G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of